Details for MYH11:c.5772G>C, p.Met1924Ile

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
1580880115714944
VARIANT EFFECT None
ANNOTATION FLAG None
GENE MYH11
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_001040113.2
CDNA CHANGE c.5772G>C
PROTEIN CHANGE p.Met1924Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.654208Polymorphism
DBSNP ID NA
1 combination linked to MYH11:c.5772G>C, p.Met1924Ile OLI1802
1 disease linked to MYH11:c.5772G>C, p.Met1924Ile Hypoplastic left heart syndrome
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