RGD:405017391 Rat Genome Database

RGD:405017391 Rat Genome Database

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Variant: RGD:405017391 - Homo sapiens

RGD ID:

405017391

ClinVar ID:

CV3091600

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CALM1 LOC130056272

Reference Nucleotide:

G

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	14	90,863,591
GRCh38	14	90,397,247

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Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001363669.2:c.-106+589G>T NM_006888.6:c.3+14G>T NG_190693.1:g.107G>T NG_013338.1:g.5265G>T More...	08/31/2023	intron variant	likely benign	Long QT syndrome 14

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV3091600	Human	catecholaminergic polymorphic ventricular tachycardia 4		IAGP		8554872	ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 4	ClinVar	PMID:28492532

Gene Symbol:	CALM1
Accession:	NM_001363669
Location:	5UTRS;INTRON

Gene Symbol:	CALM1
Accession:	NM_006888
Location:	INTRON

Gene Symbol:	CALM1
Accession:	NM_001363670
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV003795267	CLINVAR
MedGen	C3554047	CLINVAR
NCBI Gene	CALM1	CLINVAR
	LOC130056272	CLINVAR
OMIM	114180	CLINVAR
	614916	CLINVAR
	616247	CLINVAR