Details for MAMLD1:c.1508C>A, p.Ala503Glu

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
149639353150471081
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE MAMLD1
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_005491.4
CDNA CHANGE c.1508C>A
PROTEIN CHANGE p.Ala503Glu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.282e-050.00.00.00.00.01.228e-050.00.0002622

ESP
AAEA
0.00.0001486
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign1.320426Polymorphism
DBSNP ID NA
1 combination linked to MAMLD1:c.1508C>A, p.Ala503Glu OLI598
1 disease linked to MAMLD1:c.1508C>A, p.Ala503Glu Disorder of sex development
Found any issues with the data on this page? Report this entry.