RGD:405070443 Rat Genome Database

RGD:405070443 Rat Genome Database

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Variant: RGD:405070443 - Homo sapiens

RGD ID:

405070443

ClinVar ID:

CV2935582

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	15	35,082,612
GRCh38	15	34,790,411

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_388t1:c.1G>A NM_001406482.1:c.1G>A NM_001406483.1:c.1G>A NM_001406484.1:c.1G>A More...	12/20/2021	3 prime utr variant	uncertain significance	Cardiomyopathies

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2935582	Human	cardiomyopathy		IAGP		8554872	ClinVar Annotator: match by term: Cardiomyopathy	ClinVar	PMID:25741868

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2935582	Human	Cardiomyopathy		IAGP		8554872	ClinVar Annotator: match by term: Cardiomyopathy	ClinVar	PMID:25741868

Gene Symbol:	ACTC1
Accession:	XM_047432979
Location:	EXON

Gene Symbol:	ACTC1
Accession:	NM_001406484
Location:	EXON

Gene Symbol:	ACTC1
Accession:	NM_001406482
Location:	EXON

Gene Symbol:	ACTC1
Accession:	NM_005159
Location:	EXON

Gene Symbol:	ACTC1
Accession:	NM_001406483
Location:	EXON

Gene Symbol:	ACTC1
Accession:	NM_001406485
Location:	EXON

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

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868

Database	Acc Id	Source(s)
ClinVar	RCV003533571	CLINVAR
MedGen	C0878544	CLINVAR
NCBI Gene	ACTC1	CLINVAR
	GJD2-DT	CLINVAR
OMIM	102540	CLINVAR
SNOMED CT	85898001	CLINVAR