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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Retinitis Pigmentosa (D012174)
..Starting node ..Retinitis Pigmentosa 4 (C566706)
Child Nodes:
Sister Nodes:
..Aldred syndrome (C537046)
..Alstrom Syndrome (D056769)
..Amaurosis hypertrichosis (C536604)
..Bork Stender Schmidt syndrome (C536576)
..Chang Davidson Carlson syndrome (C538075)
..Chromosome Xp11.3 Deletion Syndrome (C564481)
..Cone Dystrophy 3 (C566579)
..Cone Dystrophy 4 (C567758)
..Cone Dystrophy, X-Linked, 1 (C564439)
..Cone dystrophy, x-linked, with tapetal-like sheen (C535975)
..Cone rod dystrophy amelogenesis imperfecta (C535976)
..Cone-Rod Dystrophy 1 (C563469)
..Cone-Rod Dystrophy 10 (C564597)
..Cone-Rod Dystrophy 11 (C563671)
..Cone-Rod Dystrophy 12 (C567206)
..Cone-Rod Dystrophy 13 (C567698)
..CONE-ROD DYSTROPHY 2 (OMIM:120970)
..Cone-Rod Dystrophy 3 (C565827)
..Cone-Rod Dystrophy 5 (C563415)
..Cone-Rod Dystrophy 7 (C566350)
..Cone-Rod Dystrophy 8 (C565322)
..Cone-Rod Dystrophy, X-Linked, 2 (C564717)
..Cone-Rod Dystrophy, X-Linked, 3 (C564507)
..Cone-Rod Dystrophy, X-Linked, Type 1 (C564438)
..Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness (C565306)
..Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities (C567467)
..Flynn Aird syndrome (C537066)
..Furukawa Takagi Nakao syndrome (C538193)
..Hardikar syndrome (C535632)
..Kearns-Sayre Syndrome (D007625) 1
..Leber Congenital Amaurosis 14 (C567636)
..Leber Congenital Amaurosis 3 (C565814)
..Light Fixation Seizure Syndrome (C566367)
..Mainzer-Saldino Disease (C535463)
..Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration (C566429)
..Metaphyseal Chondrodysplasia with Retinitis Pigmentosa (C565398)
..Microcephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
..MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
..Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen (C567024)
..Mirhosseini-Holmes-Walton syndrome (C538367)
..Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus (C562774)
..Neuropathy ataxia and retinis pigmentosa (C537396)
..Newfoundland Rod-Cone Dystrophy (C564391)
..Oculotrichodysplasia (C564934)
..Oliver-McFarlane syndrome (C536554)
..Pallidal Degeneration, Progressive, with Retinitis Pigmentosa (C564910)
..Peripheral Cone Dystrophy (C563813)
..Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
..Posterior column ataxia with retinitis pigmentosa (C536343)
..Radioulnar synostosis retinal pigment abnormalities (C536270)
..Retinal cone dystrophy 2 (C538363)
..Retinal Cone Dystrophy 3A (C566483)
..Retinal Cone Dystrophy 3B (C563678)
..Retinal Cone Dystrophy 4 (C566470)
..Retinitis pigmentosa 1 (C538365)
..Retinitis Pigmentosa 10 (C566715)
..Retinitis Pigmentosa 11 (C563991)
..Retinitis Pigmentosa 12 (C563999)
..Retinitis Pigmentosa 13 (C564008)
..Retinitis Pigmentosa 14 (C563992)
..Retinitis Pigmentosa 17 (C563437)
..Retinitis Pigmentosa 18 (C563320)
..Retinitis Pigmentosa 19 (C566637)
..Retinitis Pigmentosa 2 (C567523)
..Retinitis Pigmentosa 20 (C566718)
..Retinitis Pigmentosa 25 (C566425)
..Retinitis Pigmentosa 26 (C564249)
..Retinitis Pigmentosa 27 (C563526)
..Retinitis Pigmentosa 29 (C567403)
..Retinitis Pigmentosa 3 (C564520)
..Retinitis Pigmentosa 30 (C564310)
..Retinitis Pigmentosa 31 (C563685)
..Retinitis Pigmentosa 32 (C563689)
..Retinitis Pigmentosa 33 (C563676)
..Retinitis Pigmentosa 34 (C564475)
..Retinitis Pigmentosa 35 (C565206)
..Retinitis Pigmentosa 36 (C566431)
..Retinitis Pigmentosa 37 (C567005)
..Retinitis Pigmentosa 4 (C566706)
..Retinitis Pigmentosa 41 (C567422)
..Retinitis Pigmentosa 42 (C567854)
..Retinitis Pigmentosa 46 (C567249)
..RETINITIS PIGMENTOSA 50 (OMIM:613194)
..RETINITIS PIGMENTOSA 51 (OMIM:613464)
..RETINITIS PIGMENTOSA 54 (OMIM:613428)
..RETINITIS PIGMENTOSA 55 (OMIM:613575)
..RETINITIS PIGMENTOSA 56 (OMIM:613581)
..RETINITIS PIGMENTOSA 57 (OMIM:613582)
..RETINITIS PIGMENTOSA 58 (OMIM:613617)
..Retinitis Pigmentosa 6 (C564065)
..Retinitis Pigmentosa 7 (C564284)
..Retinitis Pigmentosa 7 With Bull'S-Eye Maculopathy (C567264)
..Retinitis Pigmentosa 7, Digenic (C567263)
..Retinitis Pigmentosa 9 (C566716)
..Retinitis Pigmentosa Inversa with Deafness (C564842)
..Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium (C564000)
..Retinitis Pigmentosa, Concentric (C567712)
..Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism (C564841)
..Retinitis Pigmentosa, Late-Adult Onset (C564840)
..Retinitis Pigmentosa, Late-Onset Dominant (C567369)
..Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
..Retinitis Pigmentosa, Y-Linked (C564035)
..Retinopathy, Pericentral Pigmentary, Autosomal Recessive (C564838)
..Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa (C537610)
..RHYNS syndrome (C537612)
..Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction (C564829)
..Senior-Loken syndrome 4 (C537581)
..Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa (C563806)
..Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation (C564808)
..Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy (C563825)
..Tapetoretinal Degeneration with Ataxia (C564788)
..Usher Syndromes (D052245) 19
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9761

Name:

Retinitis Pigmentosa 4

Definition:

Alternative IDs:

OMIM:613731

ParentIDs:

MESH:D012174

TreeNumbers:

C11.270.684/C566706 |C11.768.585.658.500/C566706 |C16.320.290.684/C566706

Synonyms:

Retinitis Pigmentosa, Rhodopsin-Related |RP4

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: C566706
MeSH: C566706
OMIM: 613731;

Genes: RHO;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0000512	Abnormal electroretinogram
4	HP:0000518	Cataract
5	HP:0000662	Nyctalopia
6	HP:0000580	Pigmentary retinopathy
7	HP:0000510	Rod-cone dystrophy
8	HP:0001123	Visual field defect

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000539.3(RHO):c.44A>G (p.Asn15Ser)	6010	RHO	Pathogenic	104893786	RCV000013917; RCV000132598;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009; MedGen:C3151001,OMIM:613731	3	129247620	129247620	NM_000539.3:c.44A>G	NP_000530.1:p.Asn15Ser	NC_000003.11:g.129247620A>G	OMIM Allelic Variant:180380.0029	C0035334 268000 Retinitis pigmentosa; C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.50C>T (p.Thr17Met)	6010	RHO	Pathogenic	104893769	RCV000013892;	N	MedGen:C3151001,OMIM:613731	3	129247626	129247626	NM_000539.3:c.50C>T	NP_000530.1:p.Thr17Met	NC_000003.11:g.129247626C>T	OMIM Allelic Variant:180380.0006	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.67C>G (p.Pro23Ala)	6010	RHO	Pathogenic	104893797	RCV000013930;	N	MedGen:C3151001,OMIM:613731	3	129247643	129247643	NM_000539.3:c.67C>G	NP_000530.1:p.Pro23Ala	NC_000003.11:g.129247643C>G	OMIM Allelic Variant:180380.0043	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.68C>A (p.Pro23His)	6010	RHO	Pathogenic	104893768	RCV000013887;	N	MedGen:C3151001,OMIM:613731	3	129247644	129247644	NM_000539.3:c.68C>A	NP_000530.1:p.Pro23His	NC_000003.11:g.129247644C>A	OMIM Allelic Variant:180380.0001	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.133T>C (p.Phe45Leu)	6010	RHO	Pathogenic	104893770	RCV000013893;	N	MedGen:C3151001,OMIM:613731	3	129247709	129247709	NM_000539.3:c.133T>C	NP_000530.1:p.Phe45Leu	NC_000003.11:g.129247709T>C	OMIM Allelic Variant:180380.0007	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.151G>C (p.Gly51Arg)	6010	RHO	Pathogenic	104893792	RCV000013922;	N	MedGen:C3151001,OMIM:613731	3	129247727	129247727	NM_000539.3:c.151G>C	NP_000530.1:p.Gly51Arg	NC_000003.11:g.129247727G>C	OMIM Allelic Variant:180380.0034	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.158C>G (p.Pro53Arg)	6010	RHO	Pathogenic	28933395	RCV000013912;	N	MedGen:C3151001,OMIM:613731	3	129247734	129247734	NM_000539.3:c.158C>G	NP_000530.1:p.Pro53Arg	NC_000003.11:g.129247734C>G	OMIM Allelic Variant:180380.0024	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.173C>G (p.Thr58Arg)	6010	RHO	Pathogenic	28933394	RCV000013890;	N	MedGen:C3151001,OMIM:613731	3	129247749	129247749	NM_000539.3:c.173C>G	NP_000530.1:p.Thr58Arg	NC_000003.11:g.129247749C>G	OMIM Allelic Variant:180380.0004	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.260T>A (p.Val87Asp)	6010	RHO	Pathogenic	104893771	RCV000013894;	N	MedGen:C3151001,OMIM:613731	3	129247836	129247836	NM_000539.3:c.260T>A	NP_000530.1:p.Val87Asp	NC_000003.11:g.129247836T>A	OMIM Allelic Variant:180380.0008	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.266G>A (p.Gly89Asp)	6010	RHO	Pathogenic	104893772	RCV000013895;	N	MedGen:C3151001,OMIM:613731	3	129247842	129247842	NM_000539.3:c.266G>A	NP_000530.1:p.Gly89Asp	NC_000003.11:g.129247842G>A	OMIM Allelic Variant:180380.0009	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.316G>T (p.Gly106Trp)	6010	RHO	Pathogenic	104893773	RCV000013896;	N	MedGen:C3151001,OMIM:613731	3	129247892	129247892	NM_000539.3:c.316G>T	NP_000530.1:p.Gly106Trp	NC_000003.11:g.129247892G>A,NC_000003.11:g.129247892G>T	OMIM Allelic Variant:180380.0010	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.316G>A (p.Gly106Arg)	6010	RHO	Pathogenic	104893773	RCV000013913;	N	MedGen:C3151001,OMIM:613731	3	129247892	129247892	NM_000539.3:c.316G>A	NP_000530.1:p.Gly106Arg	NC_000003.11:g.129247892G>A,NC_000003.11:g.129247892G>T	OMIM Allelic Variant:180380.0025	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.329G>A (p.Cys110Tyr)	6010	RHO	Pathogenic	104893787	RCV000013910;	N	MedGen:C3151001,OMIM:613731	3	129247905	129247905	NM_000539.3:c.329G>A	NP_000530.1:p.Cys110Tyr	NC_000003.11:g.129247905G>A	OMIM Allelic Variant:180380.0035	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.341G>A (p.Gly114Asp)	6010	RHO	Pathogenic	104893788	RCV000013923;	N	MedGen:C3151001,OMIM:613731	3	129247917	129247917	NM_000539.3:c.341G>A	NP_000530.1:p.Gly114Asp	NC_000003.11:g.129247917G>A	OMIM Allelic Variant:180380.0036	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.403C>T (p.Arg135Trp)	6010	RHO	Pathogenic	104893775	RCV000013902; RCV000013903; RCV000132597;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009; MedGen:C1405854; MedGen:C3151001,OMIM:613731	3	129249760	129249760	NM_000539.3:c.403C>T	NP_000530.1:p.Arg135Trp	NC_000003.11:g.129249760C>T	OMIM Allelic Variant:180380.0012	C0035334 268000 Retinitis pigmentosa; C3151001 613731 Retinitis pigmentosa 4; C1405854 Retinitis punctata albescens
NM_000539.3(RHO):c.404G>T (p.Arg135Leu)	6010	RHO	Pathogenic	104893774	RCV000013898;	N	MedGen:C3151001,OMIM:613731	3	129249761	129249761	NM_000539.3:c.404G>T	NP_000530.1:p.Arg135Leu	NC_000003.11:g.129249761G>T	OMIM Allelic Variant:180380.0011	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.491C>A (p.Ala164Glu)	6010	RHO	Pathogenic	104893793	RCV000013924;	N	MedGen:C3151001,OMIM:613731	3	129249848	129249848	NM_000539.3:c.491C>A	NP_000530.1:p.Ala164Glu	NC_000003.11:g.129249848C>A	OMIM Allelic Variant:180380.0037	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.511C>T (p.Pro171Ser)	6010	RHO	Pathogenic	104893794	RCV000013925;	N	MedGen:C3151001,OMIM:613731	3	129249868	129249868	NM_000539.3:c.511C>T	NP_000530.1:p.Pro171Ser	NC_000003.11:g.129249868C>T	OMIM Allelic Variant:180380.0038	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.533A>G (p.Tyr178Cys)	6010	RHO	Pathogenic	104893776	RCV000013899;	N	MedGen:C3151001,OMIM:613731	3	129251096	129251096	NM_000539.3:c.533A>G	NP_000530.1:p.Tyr178Cys	NC_000003.11:g.129251096A>G	OMIM Allelic Variant:180380.0013	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.541G>A (p.Glu181Lys)	6010	RHO	Pathogenic	775557680	RCV000177081;	N	MedGen:C3151001,OMIM:613731	3	129251104	129251104	NM_000539.3:c.541G>A	NP_000530.1:p.Glu181Lys	NC_000003.11:g.129251104G>A	-	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.544G>A (p.Gly182Ser)	6010	RHO	Pathogenic	104893780	RCV000013908;	N	MedGen:C3151001,OMIM:613731	3	129251107	129251107	NM_000539.3:c.544G>A	NP_000530.1:p.Gly182Ser	NC_000003.11:g.129251107G>A	OMIM Allelic Variant:180380.0021	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.568G>A (p.Asp190Asn)	6010	RHO	Pathogenic	104893779	RCV000013897;	N	MedGen:C3151001,OMIM:613731	3	129251131	129251131	NM_000539.3:c.568G>A	NP_000530.1:p.Asp190Asn	NC_000003.11:g.129251131G>A,NC_000003.11:g.129251131G>T	OMIM Allelic Variant:180380.0017	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.568G>T (p.Asp190Tyr)	6010	RHO	Pathogenic	104893779	RCV000013915;	N	MedGen:C3151001,OMIM:613731	3	129251131	129251131	NM_000539.3:c.568G>T	NP_000530.1:p.Asp190Tyr	NC_000003.11:g.129251131G>A,NC_000003.11:g.129251131G>T	OMIM Allelic Variant:180380.0027	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.569A>G (p.Asp190Gly)	6010	RHO	Pathogenic	104893777	RCV000013900;	N	MedGen:C3151001,OMIM:613731	3	129251132	129251132	NM_000539.3:c.569A>G	NP_000530.1:p.Asp190Gly	NC_000003.11:g.129251132A>G	OMIM Allelic Variant:180380.0014	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.620T>G (p.Met207Arg)	6010	RHO	Pathogenic	104893782	RCV000013918;	N	MedGen:C3151001,OMIM:613731	3	129251183	129251183	NM_000539.3:c.620T>G	NP_000530.1:p.Met207Arg	NC_000003.11:g.129251183T>G	OMIM Allelic Variant:180380.0028,OMIM Allelic Variant:180380.0030	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.632A>C (p.His211Pro)	6010	RHO	Pathogenic	28933993	RCV000013901;	N	MedGen:C3151001,OMIM:613731	3	129251195	129251195	NM_000539.3:c.632A>C	NP_000530.1:p.His211Pro	NC_000003.11:g.129251195A>C	OMIM Allelic Variant:180380.0018	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.790_792delTGC (p.Cys264del)	6010	RHO	Pathogenic	121918590	RCV000013926;	N	MedGen:C3151001,OMIM:613731	3	129251469	129251471	NM_000539.3:c.790_792delTGC	NP_000530.1:p.Cys264del	NC_000003.11:g.129251469_129251471delTGC	OMIM Allelic Variant:180380.0039	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.800C>T (p.Pro267Leu)	6010	RHO	Pathogenic	104893781	RCV000013909;	N	MedGen:C3151001,OMIM:613731	3	129251479	129251479	NM_000539.3:c.800C>T	NP_000530.1:p.Pro267Leu	NC_000003.11:g.129251479C>T	OMIM Allelic Variant:180380.0022	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.886A>G (p.Lys296Glu)	6010	RHO	Pathogenic	29001653	RCV000013905;	N	MedGen:C3151001,OMIM:613731	3	129251565	129251565	NM_000539.3:c.886A>G	NP_000530.1:p.Lys296Glu	NC_000003.11:g.129251565A>G	OMIM Allelic Variant:180380.0016	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.1030C>T (p.Gln344Ter)	6010	RHO	Pathogenic	104893778	RCV000013904;	N	MedGen:C3151001,OMIM:613731	3	129252544	129252544	NM_000539.3:c.1030C>T	NP_000530.1:p.Gln344Ter	NC_000003.11:g.129252544C>T	OMIM Allelic Variant:180380.0015	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.1033G>C (p.Val345Leu)	6010	RHO	Pathogenic	104893795	RCV000013927;	N	MedGen:C3151001,OMIM:613731	3	129252547	129252547	NM_000539.3:c.1033G>C	NP_000530.1:p.Val345Leu	NC_000003.11:g.129252547G>A,NC_000003.11:g.129252547G>C	OMIM Allelic Variant:180380.0040	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.1033G>A (p.Val345Met)	6010	RHO	Pathogenic	104893795	RCV000013931;	N	MedGen:C3151001,OMIM:613731	3	129252547	129252547	NM_000539.3:c.1033G>A	NP_000530.1:p.Val345Met	NC_000003.11:g.129252547G>A,NC_000003.11:g.129252547G>C	OMIM Allelic Variant:180380.0044	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.1039C>T (p.Pro347Ser)	6010	RHO	Pathogenic	29001637	RCV000013889;	N	MedGen:C3151001,OMIM:613731	3	129252553	129252553	NM_000539.3:c.1039C>T	NP_000530.1:p.Pro347Ser	NC_000003.11:g.129252553C>T	OMIM Allelic Variant:180380.0003	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)	6010	RHO	Pathogenic	29001566	RCV000013888;	N	MedGen:C3151001,OMIM:613731	3	129252554	129252554	NM_000539.3:c.1040C>T	NP_000530.1:p.Pro347Leu	NC_000003.11:g.129252554C>A,NC_000003.11:g.129252554C>G,NC_000003.11:g.129252554	OMIM Allelic Variant:180380.0002	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.1040C>G (p.Pro347Arg)	6010	RHO	Pathogenic	29001566	RCV000013907;	N	MedGen:C3151001,OMIM:613731	3	129252554	129252554	NM_000539.3:c.1040C>G	NP_000530.1:p.Pro347Arg	NC_000003.11:g.129252554C>A,NC_000003.11:g.129252554C>G,NC_000003.11:g.129252554	OMIM Allelic Variant:180380.0020	C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.1040C>A (p.Pro347Gln)	6010	RHO	Pathogenic	29001566	RCV000013928;	N	MedGen:C3151001,OMIM:613731	3	129252554	129252554	NM_000539.3:c.1040C>A	NP_000530.1:p.Pro347Gln	NC_000003.11:g.129252554C>A,NC_000003.11:g.129252554C>G,NC_000003.11:g.129252554	OMIM Allelic Variant:180380.0041	C3151001 613731 Retinitis pigmentosa 4