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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

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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 1B (OMIM:257270)
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:

8072

Name:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B

Definition:

Alternative IDs:

ParentIDs:

MESH:C536122

TreeNumbers:

C11.270/C536122/257270 |C11.744.636/C536122/257270 |C11.966.671/C536122/257270 |C16.320.290/C536122/257270 |C16.320.322/C536122/257270

Synonyms:

CSNB1B |CSNB, COMPLETE, AUTOSOMAL RECESSIVE |NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVE

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: 257270
MeSH: 257270
OMIM: 257270;

Genes: GRM6;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0007642	Congenital stationary night blindness
3	HP:0012047	Hemeralopia
4	HP:0000545	Myopia

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_000843.3(GRM6):c.2341G>A (p.Glu781Lys)	-1	-	Pathogenic	62638625	RCV000006198; RCV000086047;	N	MedGen:C1850362,OMIM:257270; MedGen:CN221809	5	178410006	178410006	NM_000843.3:c.2341G>A	NP_000834.2:p.Glu781Lys	NC_000005.9:g.178410006C>T	OMIM Allelic Variant:604096.0002	C1850362 257270 Congenital stationary night blindness, type 1B; CN221809 not provided
NM_000843.3(GRM6):c.2122C>T (p.Gln708Ter)	-1	-	Pathogenic	62638624	RCV000006199; RCV000086044;	N	MedGen:C1850362,OMIM:257270; MedGen:CN221809	5	178413133	178413133	NM_000843.3:c.2122C>T	NP_000834.2:p.Gln708Ter	NC_000005.9:g.178413133G>A	OMIM Allelic Variant:604096.0003	C1850362 257270 Congenital stationary night blindness, type 1B; CN221809 not provided
NM_000843.3(GRM6):c.1861C>T (p.Arg621Ter)	-1	-	Pathogenic	62638214	RCV000006197; RCV000086036;	N	MedGen:C1850362,OMIM:257270; MedGen:CN221809	5	178413394	178413394	NM_000843.3:c.1861C>T	NP_000834.2:p.Arg621Ter	NC_000005.9:g.178413394G>A	OMIM Allelic Variant:604096.0001	C1850362 257270 Congenital stationary night blindness, type 1B; CN221809 not provided
NM_000843.3(GRM6):c.1565G>A (p.Cys522Tyr)	-1	-	Pathogenic	62638208	RCV000006203; RCV000086028;	N	MedGen:C1850362,OMIM:257270; MedGen:CN221809	5	178413690	178413690	NM_000843.3:c.1565G>A	NP_000834.2:p.Cys522Tyr	NC_000005.9:g.178413690C>T	OMIM Allelic Variant:604096.0007	C1850362 257270 Congenital stationary night blindness, type 1B; CN221809 not provided
NM_000843.3(GRM6):c.1462C>T (p.Gln488Ter)	-1	-	Pathogenic	748979061	RCV000179789;	N	MedGen:C1850362,OMIM:257270	5	178413877	178413877	NM_000843.3:c.1462C>T	NP_000834.2:p.Gln488Ter	NC_000005.9:g.178413877G>A	-	C1850362 257270 Congenital stationary night blindness, type 1B
NM_000843.3(GRM6):c.1214T>C (p.Ile405Thr)	-1	-	Likely pathogenic;Pathogenic	121434304	RCV000006204;	N	MedGen:C1850362,OMIM:257270	5	178416076	178416076	NM_000843.3:c.1214T>C	NP_000834.2:p.Ile405Thr	NC_000005.9:g.178416076A>G	OMIM Allelic Variant:604096.0008	C1850362 257270 Congenital stationary night blindness, type 1B
NM_000843.3(GRM6):c.448G>A (p.Gly150Ser)	2916	GRM6	Pathogenic	62638202	RCV000006200; RCV000086056;	N	MedGen:C1850362,OMIM:257270; MedGen:CN221809	5	178421498	178421498	NM_000843.3:c.448G>A	NP_000834.2:p.Gly150Ser	NC_000005.9:g.178421498C>T	OMIM Allelic Variant:604096.0004	C1850362 257270 Congenital stationary night blindness, type 1B; CN221809 not provided
NM_000843.3(GRM6):c.137C>T (p.Pro46Leu)	2916	GRM6	Pathogenic	62638197	RCV000006201; RCV000086025;	N	MedGen:C1850362,OMIM:257270; MedGen:CN221809	5	178421809	178421809	NM_000843.3:c.137C>T	NP_000834.2:p.Pro46Leu	NC_000005.9:g.178421809G>A	OMIM Allelic Variant:604096.0005	C1850362 257270 Congenital stationary night blindness, type 1B; CN221809 not provided