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Hello! Guest! Please Login or Register! Clinician Mode

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: Usher Syndromes (D052245)
..Starting node ..Usher Syndrome, Type IG (C564643)
Child Nodes:
Sister Nodes:
..Usher syndrome, type 1B (C536485)
..Usher syndrome, type 1C (C536486)
..Usher syndrome, type 1D (C536487)
..Usher syndrome, type 1E (C536488)
..Usher syndrome, type 1F (C536489)
..Usher syndrome, type 2A (C536490)
..Usher syndrome, type 2B (C536491)
..Usher syndrome, type 2C (C536492)
..Usher Syndrome, Type Ib (C564755)
..Usher Syndrome, Type IC (C564753)
..Usher Syndrome, Type ID (C563400)
..Usher Syndrome, Type ID/F (C567409)
..Usher Syndrome, Type IE (C566577)
..Usher Syndrome, Type IF (C566586)
..Usher Syndrome, Type IG (C564643)
..Usher Syndrome, Type IH (C567227)
..USHER SYNDROME, TYPE IID (OMIM:611383)
..USHER SYNDROME, TYPE IIIA (OMIM:276902)
..USHER SYNDROME, TYPE IJ (OMIM:614869)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11458

Name:

Usher Syndrome, Type IG

Definition:

Alternative IDs:

OMIM:606943

ParentIDs:

MESH:D052245

TreeNumbers:

C09.218.458.341.186.500.500/C564643 |C09.218.458.341.887.886/C564643 |C10.597.751.418.341.186.500.500/C564643 |C10.597.751.418.341.887.886/C564643 |C10.597.751.941.162.625.500/C564643 |C11.768.585.658.500.813/C564643 |C11.966.075.375.500/C564643 |C16.131.077.29

Synonyms:

USH1G

Slim Mappings:

Reference:

MedGen: C564643
MeSH: C564643
OMIM: 606943;

Genes: USH1G;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0004646	Hypoplasia of the nasal bone
3	HP:0000510	Rod-cone dystrophy
4	HP:0000407	Sensorineural hearing impairment
5	HP:0001751	Vestibular dysfunction

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_033056.3(PCDH15):c.733C>T (p.Arg245Ter)	65217	PCDH15	Pathogenic	111033260	RCV000055970; RCV000005218; RCV000218809;	Y	MedGen:C1568247,OMIM:276900; MedGen:C1847089,OMIM:606943; MedGen:C1865885,OMIM:602083	10	56077174	56077174	NM_033056.3:c.733C>T	NP_149045.3:p.Arg245Ter	NC_000010.10:g.56077174G>A	OMIM Allelic Variant:605514.0004	C1568247 276900 Usher syndrome, type 1; C1865885 602083 Usher syndrome, type 1F; C1847089 606943 Usher syndrome, type 1G
NM_033056.3(PCDH15):c.394dupG (p.Glu132Glyfs)	65217	PCDH15	Pathogenic	397515566	RCV000055969;	N	MedGen:C1847089,OMIM:606943	10	56128960	56128960	NM_033056.3:c.394dupG	NP_149045.3:p.Glu132Glyfs	NC_000010.10:g.56128960dupC	-	C1847089 606943 Usher syndrome, type 1G
NM_173477.4(USH1G):c.1373A>T (p.Asp458Val)	124590	USH1G	Likely pathogenic	397517925	RCV000041415;	N	MedGen:C1847089,OMIM:606943	17	72915558	72915558	NM_173477.4:c.1373A>T	NP_775748.2:p.Asp458Val	NC_000017.10:g.72915558T>A	-	C1847089 606943 Usher syndrome, type 1G
NM_173477.4(USH1G):c.832_851del20 (p.Ser278Profs)	124590	USH1G	Pathogenic	397515345	RCV000003050; RCV000216021;	N	MedGen:C1568247,OMIM:276900; MedGen:C1847089,OMIM:606943	17	72916080	72916099	NM_173477.4:c.832_851del20	NP_775748.2:p.Ser278Profs	NC_000017.10:g.72916080_72916099del20	OMIM Allelic Variant:607696.0003	C1568247 276900 Usher syndrome, type 1; C1847089 606943 Usher syndrome, type 1G
NM_173477.4(USH1G):c.394dupG (p.Val132Glyfs)	124590	USH1G	Pathogenic	-1	RCV000003051; RCV000222936;	N	MedGen:C1568247,OMIM:276900; MedGen:C1847089,OMIM:606943	17	72916537	72916537	NM_173477.4:c.394dupG	NP_775748.2:p.Val132Glyfs		OMIM Allelic Variant:607696.0004	C1568247 276900 Usher syndrome, type 1; C1847089 606943 Usher syndrome, type 1G
NM_173477.4(USH1G):c.186_187delCA (p.Ile63Leufs)	124590	USH1G	Pathogenic	730880268	RCV000003049;	N	MedGen:C1847089,OMIM:606943	17	72916744	72916745	NM_173477.4:c.186_187delCA	NP_775748.2:p.Ile63Leufs	NC_000017.10:g.72916744_72916745delTG	OMIM Allelic Variant:607696.0002	C1847089 606943 Usher syndrome, type 1G
NM_173477.4(USH1G):c.143T>C (p.Leu48Pro)	124590	USH1G	Pathogenic	104894651	RCV000003048;	N	MedGen:C1847089,OMIM:606943	17	72919026	72919026	NM_173477.4:c.143T>C	NP_775748.2:p.Leu48Pro	NC_000017.10:g.72919026A>G	OMIM Allelic Variant:607696.0001	C1847089 606943 Usher syndrome, type 1G
NM_173477.4(USH1G):c.113G>A (p.Trp38Ter)	124590	USH1G	Pathogenic	104894652	RCV000003052;	N	MedGen:C1847089,OMIM:606943	17	72919056	72919056	NM_173477.4:c.113G>A	NP_775748.2:p.Trp38Ter	NC_000017.10:g.72919056C>T	OMIM Allelic Variant:607696.0005	C1847089 606943 Usher syndrome, type 1G