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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

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

Disease Browser
Parent Node: Diseases (C)
Parent Node: Night blindness, congenital stationary (C536122)
..Starting node ..NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C (OMIM:613216)
Child Nodes:
Sister Nodes:
..NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A (OMIM:310500)
..NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B (OMIM:257270)
..NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C (OMIM:613216)
..NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A (OMIM:300071)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8073

Name:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C

Definition:

Alternative IDs:

ParentIDs:

MESH:C536122

TreeNumbers:

C11.270/C536122/613216 |C11.744.636/C536122/613216 |C11.966.671/C536122/613216 |C16.320.290/C536122/613216 |C16.320.322/C536122/613216

Synonyms:

CSNB1C |CSNB, COMPLETE, AUTOSOMAL RECESSIVE

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: 613216
MeSH: 613216
OMIM: 613216;

Genes: TRPM1;

Phenotypes

1	HP:0000512	Abnormal electroretinogram
2	HP:0007642	Congenital stationary night blindness	HP:0040280
3	HP:0000958	Dry skin
4	HP:0000964	Eczema
5	HP:0000545	Myopia
6	HP:0000639	Nystagmus
7	HP:0007663	Reduced visual acuity

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_002420.5(TRPM1):c.3505delG (p.Glu1169Argfs)	4308	TRPM1	Pathogenic	778390089	RCV000176649;	N	MedGen:C2750747,OMIM:613216	15	31318400	31318400	NM_002420.5:c.3505delG	NP_002411.3:p.Glu1169Argfs	NC_000015.9:g.31318400delC	-	C2750747 613216 Congenital stationary night blindness, type 1C
NM_002420.5(TRPM1):c.3105T>A (p.Tyr1035Ter)	4308	TRPM1	Pathogenic	267607140	RCV000006603;	N	MedGen:C2750747,OMIM:613216	15	31320657	31320657	NM_002420.5:c.3105T>A	NP_002411.3:p.Tyr1035Ter	NC_000015.9:g.31320657A>T	OMIM Allelic Variant:603576.0003	C2750747 613216 Congenital stationary night blindness, type 1C
NM_002420.5(TRPM1):c.2998C>T (p.Arg1000Ter)	4308	TRPM1	Pathogenic	369742878	RCV000176290; RCV000154021;	N	MedGen:C2750747,OMIM:613216; MedGen:CN221809	15	31323249	31323249	NM_002420.5:c.2998C>T	NP_002411.3:p.Arg1000Ter	NC_000015.9:g.31323249G>A	-	C2750747 613216 Congenital stationary night blindness, type 1C; CN221809 not provided
NM_002420.5(TRPM1):c.2645C>A (p.Ser882Ter)	4308	TRPM1	Pathogenic	786205113	RCV000023311;	N	MedGen:C2750747,OMIM:613216	15	31325133	31325133	NM_002420.5:c.2645C>A	NP_002411.3:p.Ser882Ter	NC_000015.9:g.31325133G>T	OMIM Allelic Variant:603576.0009	C2750747 613216 Congenital stationary night blindness, type 1C
NM_002420.5(TRPM1):c.1870C>T (p.Arg624Cys)	4308	TRPM1	Pathogenic	387906862	RCV000023310;	N	MedGen:C2750747,OMIM:613216	15	31334305	31334305	NM_002420.5:c.1870C>T	NP_002411.3:p.Arg624Cys	NC_000015.9:g.31334305G>A	OMIM Allelic Variant:603576.0008	C2750747 613216 Congenital stationary night blindness, type 1C
NM_002420.5(TRPM1):c.1832C>A (p.Pro611His)	4308	TRPM1	Pathogenic	267607139	RCV000006606;	N	MedGen:C2750747,OMIM:613216	15	31334343	31334343	NM_002420.5:c.1832C>A	NP_002411.3:p.Pro611His	NC_000015.9:g.31334343G>T	OMIM Allelic Variant:603576.0006	C2750747 613216 Congenital stationary night blindness, type 1C
NM_002420.5(TRPM1):c.1023+3_1023+6delAAGT	4308	TRPM1	Pathogenic	772011426	RCV000023312;	N	MedGen:C2750747,OMIM:613216	15	31354776	31354779	NM_002420.5:c.1023+3_1023+6delAAGT		NC_000015.9:g.31354776_31354779delACTT	OMIM Allelic Variant:603576.0010	C2750747 613216 Congenital stationary night blindness, type 1C
NM_002420.5(TRPM1):c.707T>C (p.Leu236Pro)	4308	TRPM1	Likely pathogenic	869312176	RCV000210285;	N	MedGen:C2750747,OMIM:613216	15	31358296	31358296	NM_002420.5:c.707T>C	NP_002411.3:p.Leu236Pro	NC_000015.9:g.31358296A>G	-	C2750747 613216 Congenital stationary night blindness, type 1C
NM_002420.5(TRPM1):c.296T>C (p.Leu99Pro)	4308	TRPM1	Pathogenic	191205969	RCV000006605;	N	MedGen:C2750747,OMIM:613216	15	31360213	31360213	NM_002420.5:c.296T>C	NP_002411.3:p.Leu99Pro	NC_000015.9:g.31360213A>G	OMIM Allelic Variant:603576.0005	C2750747 613216 Congenital stationary night blindness, type 1C
NM_002420.5(TRPM1):c.31C>T (p.Gln11Ter)	4308	TRPM1	Pathogenic	267607141	RCV000006604;	N	MedGen:C2750747,OMIM:613216	15	31362416	31362416	NM_002420.5:c.31C>T	NP_002411.3:p.Gln11Ter	NC_000015.9:g.31362416G>A	OMIM Allelic Variant:603576.0004	C2750747 613216 Congenital stationary night blindness, type 1C