Details for MYH6:c.4231G>A, p.Ala1411Thr

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
2385749223388283
VARIANT EFFECT None
ANNOTATION FLAG None
GENE MYH6
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_002471.4
CDNA CHANGE c.4231G>A
PROTEIN CHANGE p.Ala1411Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
2.784e-050.00.00.00.00027180.01.758e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.729389Disease causing
DBSNP ID rs146172839
1 combination linked to MYH6:c.4231G>A, p.Ala1411Thr OLI998
2 diseases linked to MYH6:c.4231G>A, p.Ala1411Thr Androgen insensitivity syndrome; 46,XY disorder of sex development
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