Details for MAMLD1:c.1514T>C, p.Val505Ala

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
149639359150471087
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE MAMLD1
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_005491.4
CDNA CHANGE c.1514T>C
PROTEIN CHANGE p.Val505Ala
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0540.19540.01530.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.014720.17870.009450.00013397.228e-050.00.00058890.0068550.0004719

ESP
AAEA
0.16450.0007432
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign-0.386698Polymorphism
DBSNP ID NA
1 combination linked to MAMLD1:c.1514T>C, p.Val505Ala OLI597
1 disease linked to MAMLD1:c.1514T>C, p.Val505Ala Disorder of sex development
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