Details for MYH7:c.4459G>A, p.Ala1487Thr

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
2388642223417213
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE MYH7
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000257.3
CDNA CHANGE c.4459G>A
PROTEIN CHANGE p.Ala1487Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.193e-050.02.891e-050.00.00.01.758e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.667223Disease causing
DBSNP ID rs766909770
1 combination linked to MYH7:c.4459G>A, p.Ala1487Thr OLI571
1 disease linked to MYH7:c.4459G>A, p.Ala1487Thr Limb-girdle muscular dystrophy
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