Details for EVC:c.1892C>T, p.Thr631Met

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
57987545797027
VARIANT EFFECT missense
ANNOTATION FLAG manually_corrected
GENE EVC
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_153717.3
CDNA CHANGE c.1892C>T
PROTEIN CHANGE p.Thr631Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0010.00230.00.00.00.002

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0001340.0016398.694e-050.00.00.00.00.00.0001639

ESP
AAEA
0.0025140.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging2.393799Polymorphism
DBSNP ID rs139481521
1 combination linked to EVC:c.1892C>T, p.Thr631Met OLI597
1 disease linked to EVC:c.1892C>T, p.Thr631Met Disorder of sex development
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