Details for TXN2:c.156A>G, p.Ile52Met

CHROMOSOME 22
GENOMIC COORDINATES
hg19hg38
3687672936480682
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TXN2
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_012473.3
CDNA CHANGE c.156A>G
PROTEIN CHANGE p.Ile52Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00120.00.00.0060.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00064420.00.00.00.0086440.00.00.00048860.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign0.537923Polymorphism
DBSNP ID rs146269725
1 combination linked to TXN2:c.156A>G, p.Ile52Met OLI725
1 disease linked to TXN2:c.156A>G, p.Ile52Met Isolated anencephaly
Found any issues with the data on this page? Report this entry.