Details for MAML3:c.1612A>G, p.Met538Val

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
140810966139889812
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE MAML3
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_018717.4
CDNA CHANGE c.1612A>G
PROTEIN CHANGE p.Met538Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00180.00.00.00890.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00055750.00.09.934e-050.0076190.00.00.03.268e-05

ESP
AAEA
0.00.0001185
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging2.781831None
DBSNP ID rs148778901
1 combination linked to MAML3:c.1612A>G, p.Met538Val OLI346
1 disease linked to MAML3:c.1612A>G, p.Met538Val 46,XY disorder of sex development
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