Details for MAML3:c.881A>G, p.Asn294Ser

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
140811709139890555
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE MAML3
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_018717.4
CDNA CHANGE c.881A>G
PROTEIN CHANGE p.Asn294Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00180.00.00430.00.0040.002

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0022070.00058120.00095570.0023840.00.00074250.0035930.0019830.001634

ESP
AAEA
0.00078620.003382
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging2.359457Polymorphism
DBSNP ID rs115966590
2 combinations linked to MAML3:c.881A>G, p.Asn294Ser OLI603; OLI604
1 disease linked to MAML3:c.881A>G, p.Asn294Ser Disorder of sex development
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