rs761734438 Rat Genome Database

rs761734438 Rat Genome Database

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Variant: rs761734438 - Homo sapiens

RGD ID:

28883057

RS ID:

rs761734438

ClinVar ID:

CV887416

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	2	96,967,250
GRCh38	2	96,301,512

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Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_014014.5:c.574+12C>T NG_016973.1:g.9048C>T NM_014014.4:c.574+12C>T NC_000002.11:g.96967250G>A More...	02/04/2022	intron variant	likely benign\|uncertain significance	none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; Tapetoretinal degeneration

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV887416	Human	retinitis pigmentosa		IAGP		8554872	ClinVar Annotator: match by term: Retinitis pigmentosa	ClinVar	PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV887416	Human	Rod-cone dystrophy		IAGP		8554872	ClinVar Annotator: match by term: Retinitis pigmentosa	ClinVar	PMID:28492532

Gene Symbol:	SNRNP200
Accession:	NM_014014
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV001136811	CLINVAR
	RCV002070594	CLINVAR
dbSNP (RS)	rs761734438	CLINVAR
MedGen	C0035334	CLINVAR
	C3661900	CLINVAR
NCBI Gene	SNRNP200	CLINVAR
OMIM	268000	CLINVAR
	601664	CLINVAR
SNOMED CT	28835009	CLINVAR