rs773030662 Rat Genome Database

rs773030662 Rat Genome Database

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Variant: rs773030662 - Homo sapiens

RGD ID:

150545242

RS ID:

rs773030662

ClinVar ID:

CV1315497

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC105370752 LOC126862088 TRPM1

Reference Nucleotide:

A

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	15	31,319,116
GRCh38	15	31,026,913

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001252024.2:c.3496+2T>C NM_001252020.2:c.3547+2T>C NG_016453.2:g.139361T>C NC_000015.10:g.31026913A>G More...	03/29/2023	splice donor variant	likely pathogenic	Night blindness, congenital stationary (complete), 1C, autosomal recessive

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1315497	Human	congenital stationary night blindness 1C		IAGP		8554872	ClinVar Annotator: match by term: Congenital stationary night blindness 1C	ClinVar	PMID:25741868

Gene Symbol:	LOC105370752
Accession:	XR_932056
Location:	EXON;NON-CODING

Gene Symbol:	TRPM1
Accession:	NM_001252020
Location:	INTRON

Gene Symbol:	TRPM1
Accession:	NM_001252024
Location:	INTRON

Gene Symbol:	TRPM1
Accession:	NM_002420
Location:	INTRON

Gene Symbol:	TRPM1
Accession:	NM_001252030
Location:	INTRON

Gene Symbol:	LOC105370752
Accession:	XR_932055
Location:	INTRON;NON-CODING

Gene Symbol:	LOC105370752
Accession:	XR_007064555
Location:	INTRON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868

Database	Acc Id	Source(s)
ClinVar	RCV001783914	CLINVAR
dbSNP (RS)	rs773030662	CLINVAR
MedGen	C2750747	CLINVAR
NCBI Gene	LOC126862088	CLINVAR
	TRPM1	CLINVAR
OMIM	603576	CLINVAR
	613216	CLINVAR