rs780044707 Rat Genome Database

rs780044707 Rat Genome Database

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Variant: rs780044707 - Homo sapiens

RGD ID:

11593592

RS ID:

rs780044707

ClinVar ID:

CV288406

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC112841608 SNRNP200

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	2	96,971,270
GRCh38	2	96,305,532

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_016973.1:g.5028G>A NC_000002.12:g.96305532C>T NC_000002.11:g.96971270C>T NG_061341.1:g.222C>T More...	01/13/2018	5 prime utr variant	uncertain significance	Tapetoretinal degeneration

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV288406	Human	retinitis pigmentosa		IAGP		8554872	ClinVar Annotator: match by term: Retinitis Pigmentosa and Dominant	ClinVar

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV288406	Human	Rod-cone dystrophy		IAGP		8554872	ClinVar Annotator: match by term: Retinitis pigmentosa	ClinVar

Gene Symbol:	SNRNP200
Accession:	NM_014014
Location:	5UTRS;EXON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV000350302	CLINVAR
dbSNP (RS)	rs780044707	CLINVAR
MedGen	C0035334	CLINVAR
NCBI Gene	112841608	CLINVAR
	SNRNP200	CLINVAR
OMIM	268000	CLINVAR
	601664	CLINVAR
SNOMED CT	28835009	CLINVAR