Details for MAMLD1:c.1804T>C, p.Ser602Pro

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
149639724150471452
VARIANT EFFECT None
ANNOTATION FLAG None
GENE MAMLD1
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_001177465
CDNA CHANGE c.1804T>C
PROTEIN CHANGE p.Ser602Pro
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
5.507e-060.03.646e-050.00.00.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign-0.217691Polymorphism
DBSNP ID NA
2 combinations linked to MAMLD1:c.1804T>C, p.Ser602Pro OLI1547; OLI1548
1 disease linked to MAMLD1:c.1804T>C, p.Ser602Pro 46,XY disorder of sex development

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