rs765669374 Rat Genome Database

rs765669374 Rat Genome Database

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Variant: rs765669374 - Homo sapiens

RGD ID:

11582468

RS ID:

rs765669374

ClinVar ID:

CV284743

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	2	202,645,868
GRCh38	2	201,781,145

JBrowse:

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Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_008775.1:g.5028G>A NC_000002.12:g.201781145C>T NC_000002.11:g.202645868C>T LRG_654:g.5028G>A More...	06/14/2016	5 prime utr variant	uncertain significance	ALS2-related condition; ALS2-Related Disorders; ALS2-Related Spectrum Disorders

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV284743	Human	amyotrophic lateral sclerosis type 2		IAGP		8554872	ClinVar Annotator: match by term: ALS2-Related Spectrum Disorders	ClinVar
CV284743	Human	Amyotrophic Lateral Sclerosis, Autosomal Recessive		IAGP		8554872	ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis and Recessive	ClinVar

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV000259954	CLINVAR
	RCV000317537	CLINVAR
dbSNP (RS)	rs765669374	CLINVAR
MedGen	CN169291	CLINVAR
	CN239196	CLINVAR
NCBI Gene	ALS2	CLINVAR
	LOC129935420	CLINVAR
OMIM	606352	CLINVAR