Details for MAMLD1:c.1500_1505dup, p.Gln501_Gln502dup

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
149639336150471064
VARIANT EFFECT insertion
ANNOTATION FLAG manually_corrected
GENE MAMLD1
REFERENCE ALLELE G
ALTERNATE ALLELE GCAGCAG
TRANSCRIPT NM_005491.4
CDNA CHANGE c.1500_1505dup
PROTEIN CHANGE p.Gln501_Gln502dup
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone0.235716None
DBSNP ID rs781802555
1 combination linked to MAMLD1:c.1500_1505dup, p.Gln501_Gln502dup OLI603
1 disease linked to MAMLD1:c.1500_1505dup, p.Gln501_Gln502dup Disorder of sex development
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