Details for MAMLD1:c.1041C>A, p.His347Gln

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
149638886150470614
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE MAMLD1
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_005491.4
CDNA CHANGE c.1041C>A
PROTEIN CHANGE p.His347Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.01850.06880.00190.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.005410.06560.0036130.00013470.00.00.00015050.001770.0001051

ESP
AAEA
0.057890.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.154796Polymorphism
DBSNP ID NA
2 combinations linked to MAMLD1:c.1041C>A, p.His347Gln OLI600; OLI601
1 disease linked to MAMLD1:c.1041C>A, p.His347Gln Disorder of sex development
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