Details for MYH7:c.611G>A, p.Arg204His

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
2390099823431789
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE MYH7
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000257.3
CDNA CHANGE c.611G>A
PROTEIN CHANGE p.Arg204His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.591e-050.00.00.05.437e-050.01.758e-050.03.266e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging2.906938Disease causing
DBSNP ID rs397516260
1 combination linked to MYH7:c.611G>A, p.Arg204His OLI569
1 disease linked to MYH7:c.611G>A, p.Arg204His Limb-girdle muscular dystrophy
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