Details for MYH7:c.2207T>C, p.Ile736Thr

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
2389498323425774
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE MYH7
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_000257.3
CDNA CHANGE c.2207T>C
PROTEIN CHANGE p.Ile736Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.825415Disease causing
DBSNP ID rs727503261
1 combination linked to MYH7:c.2207T>C, p.Ile736Thr OLI451
1 disease linked to MYH7:c.2207T>C, p.Ile736Thr Hypertrophic cardiomyopathy
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