rs375811174 Rat Genome Database

rs375811174 Rat Genome Database

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Variant: rs375811174 - Homo sapiens

RGD ID:

151864288

RS ID:

rs375811174

ClinVar ID:

CV1374606

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	1	116,243,981
GRCh38	1	115,701,360

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001232.4:c.1081T>A LRG_404:g.72446T>A NG_008802.1:g.72446T>A NC_000001.11:g.115701360A>T More...	10/21/2021	missense variant	uncertain significance	Catecholaminergic polymorphic ventricular tachycardia 2; Stress-induced polymorphic ventricular tachycardia; VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1; VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 2

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1374606	Human	catecholaminergic polymorphic ventricular tachycardia 1		IAGP		8554872	ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1	ClinVar	PMID:25741868 more ...
CV1374606	Human	catecholaminergic polymorphic ventricular tachycardia 2		IAGP		8554872	ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2	ClinVar	PMID:25741868 more ...

Gene Symbol:	CASQ2
Accession:	NM_001232
Location:	EXON
Amino Acid Prediction:	W to R (nonsynonymous)
Amino Acid Position:	361

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKRTHLFIVGIYFLSSCRAEEGLNFPTYDGKDRVVSLSEKNFKQVLKKYDLLCLYYHEPVSSDKVTQKQFQLKEIVLELV AQVLEHKAIGFVMVDAKKEAKLAKKLGFDEEGSLYILKGDRTIEFDGEFAADVLVEFLLDLIEDPVEIISSKLEVQAFER IEDYIKLIGFFKSEDSEYYKAFEEAAEHFQPYIKFFATFDKGVAKKLSLKMNEVDFYEPFMDEPIAIPNKPYTEEELVEF VKEHQRPTLRRLRPEEMFETWEDDLNGIHIVAFAEKSDPDGYEFLEILKQVARDNTDNPDLSILWIDPDDFPLLVAYWEK TFKIDLFRPQIGVVNVTDADSVWMEIPDDDDLPTAEELEDRIEDVLSGKINTEDDDEDDDDDDNSDEEDNDDSDDDDDE*

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:28492532	PMID:32693635

Database	Acc Id	Source(s)
ClinVar	RCV002482691	CLINVAR
	RCV002553516	CLINVAR
	RCV003348576	CLINVAR
dbSNP (RS)	rs375811174	CLINVAR
MedGen	C1631597	CLINVAR
	C2677794	CLINVAR
NCBI Gene	CASQ2	CLINVAR
OMIM	114251	CLINVAR
	604772	CLINVAR
	611938	CLINVAR