rs1887113791 Rat Genome Database

rs1887113791 Rat Genome Database

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Variant: rs1887113791 - Homo sapiens

RGD ID:

38484491

RS ID:

rs1887113791

ClinVar ID:

CV927194

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CALM1 LOC126862021

Reference Nucleotide:

A

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	14	90,870,832
GRCh38	14	90,404,488

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001363669.2:c.287A>T NM_001363670.2:c.398A>T NM_006888.6:c.395A>T NG_013338.1:g.12506A>T More...	05/22/2019	missense variant	pathogenic	Long QT syndrome 14

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV927194	Human	catecholaminergic polymorphic ventricular tachycardia 4		IAGP		8554872	ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 4	ClinVar	PMID:27374306\|PMID:28492532

Gene Symbol:	CALM1
Accession:	NM_006888
Location:	EXON
Amino Acid Prediction:	D to V (nonsynonymous)
Amino Acid Position:	132

Amino Acid Sequence (Calculated using NCBI transcript definition)
MADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDT DSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLTDEEVDEMIREADIVGDGQVNYEEFVQMMTAK*

Gene Symbol:	CALM1
Accession:	NM_001363669
Location:	EXON
Amino Acid Prediction:	D to V (nonsynonymous)
Amino Acid Position:	96

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDTDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEK LTDEEVDEMIREADIVGDGQVNYEEFVQMMTAK*

Gene Symbol:	CALM1
Accession:	NM_001363670
Location:	EXON
Amino Acid Prediction:	D to V (nonsynonymous)
Amino Acid Position:	133

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKD TDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLTDEEVDEMIREADIVGDGQVNYEEFVQMMTAK*

ClinVar GRCh37	ClinVar GRCh38

PMID:27374306	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV001219455	CLINVAR
dbSNP (RS)	rs1887113791	CLINVAR
MedGen	C3554047	CLINVAR
NCBI Gene	CALM1	CLINVAR
	LOC126862021	CLINVAR
OMIM	114180	CLINVAR
	614916	CLINVAR
	616247	CLINVAR