Details for AMH:c.428C>T, p.Thr143Ile

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
22503512250352
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE AMH
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000479.4
CDNA CHANGE c.428C>T
PROTEIN CHANGE p.Thr143Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00380.00150.00290.00.01490.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0053710.0013380.002310.0032020.00.0066020.0092930.0065620.0

ESP
AAEA
0.0011490.007464
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.887305Polymorphism
DBSNP ID rs139265145
1 combination linked to AMH:c.428C>T, p.Thr143Ile OLI668
1 disease linked to AMH:c.428C>T, p.Thr143Ile 46,XY disorder of sex development
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