Details for MAML2:c.620G>A, p.Arg207His

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
9582657596093411
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE MAML2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_032427.3
CDNA CHANGE c.620G>A
PROTEIN CHANGE p.Arg207His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0001730.00.00011580.00.0018910.02.673e-050.00016533.268e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging2.531595Polymorphism
DBSNP ID rs191391876
1 combination linked to MAML2:c.620G>A, p.Arg207His OLI604
1 disease linked to MAML2:c.620G>A, p.Arg207His Disorder of sex development
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