Details for MAML2:c.722G>A, p.Arg241Gln

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
9582647396093309
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE MAML2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_032427.3
CDNA CHANGE c.722G>A
PROTEIN CHANGE p.Arg241Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.01420.05070.00580.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0035830.0510.0020280.00.04.643e-050.00015070.0016550.0001634

ESP
AAEA
0.050310.0002416
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.925982Polymorphism
DBSNP ID rs111958464
1 combination linked to MAML2:c.722G>A, p.Arg241Gln OLI601
1 disease linked to MAML2:c.722G>A, p.Arg241Gln Disorder of sex development
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