Details for FLNA:c.3756G>A, p.Ala1252Ala

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
153588407154360039
VARIANT EFFECT silent
ANNOTATION FLAG manually_corrected
GENE FLNA
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001110556.2
CDNA CHANGE c.3756G>A
PROTEIN CHANGE p.Ala1252Ala
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00080.00.00190.00.00260.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00020590.00.00029260.00.00.00.00031270.00090440.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone-0.01409Polymorphism
DBSNP ID rs186619828
1 combination linked to FLNA:c.3756G>A, p.Ala1252Ala OLI352
1 disease linked to FLNA:c.3756G>A, p.Ala1252Ala 46,XY disorder of sex development
Found any issues with the data on this page? Report this entry.