Details for GEN1:c.181T>A, p.Ser61Thr

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
1794268217761415
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE GEN1
REFERENCE ALLELE T
ALTERNATE ALLELE A
TRANSCRIPT NM_001130009.2
CDNA CHANGE c.181T>A
PROTEIN CHANGE p.Ser61Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0001350.00.00.00.0018340.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging3.669183Disease causing
DBSNP ID rs540697801
1 combination linked to GEN1:c.181T>A, p.Ser61Thr OLI028
1 disease linked to GEN1:c.181T>A, p.Ser61Thr Müllerian aplasia
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