rs966275735 Rat Genome Database

rs966275735 Rat Genome Database

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Variant: rs966275735 - Homo sapiens

RGD ID:

28885617

RS ID:

rs966275735

ClinVar ID:

CV873260

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	15	35,080,425
GRCh38	15	34,788,224

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Clinical Significance	Trait Synonyms
NC_000015.9:g.35080425A>G LRG_388t1:c.2188T>C NM_005159.4:c.2188T>C LRG_388:g.12503T>C More...	01/13/2018	uncertain significance	ACTC1-Related Familial Hypertrophic Cardiomyopathy; Familial hypertrophic cardiomyopathy 11

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV873260	Human	dilated cardiomyopathy 1R		IAGP		8554872	ClinVar Annotator: match by term: Dilated cardiomyopathy 1R	ClinVar
CV873260	Human	hypertrophic cardiomyopathy 11		IAGP		8554872	ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 11	ClinVar

Gene Symbol:	GJD2-DT
Accession:	NR_120329
Location:	INTRON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV001119105	CLINVAR
	RCV001119106	CLINVAR
dbSNP (RS)	rs966275735	CLINVAR
MedGen	C2677506	CLINVAR
	C3150681	CLINVAR
NCBI Gene	101928174	CLINVAR
	ACTC1	CLINVAR
OMIM	102540	CLINVAR
	612098	CLINVAR
	613424	CLINVAR