Details for KCNH2:c.298C>G, p.Arg100Gly

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
150671808150974720
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE KCNH2
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_000238.3
CDNA CHANGE c.298C>G
PROTEIN CHANGE p.Arg100Gly
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.838964Disease causing
DBSNP ID rs121912515
1 combination linked to KCNH2:c.298C>G, p.Arg100Gly OLI363
1 disease linked to KCNH2:c.298C>G, p.Arg100Gly Familial long QT syndrome
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