Details for MAMLD1:c.530C>T, p.Thr177Met

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
149638450150470178
VARIANT EFFECT None
ANNOTATION FLAG None
GENE MAMLD1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001177465
CDNA CHANGE c.530C>T
PROTEIN CHANGE p.Thr177Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00030.00.00.00.00130.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0011177.599e-050.00032820.00053430.00.0032480.0016730.00044130.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging1.923126Polymorphism
DBSNP ID NA
1 combination linked to MAMLD1:c.530C>T, p.Thr177Met OLI1524
1 disease linked to MAMLD1:c.530C>T, p.Thr177Met 46,XY disorder of sex development
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