Details for EDA:c.769G>C, p.Gly257Arg

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
6925034670030496
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE EDA
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_001399.4
CDNA CHANGE c.769G>C
PROTEIN CHANGE p.Gly257Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging3.915806Disease causing
DBSNP ID NA
1 combination linked to EDA:c.769G>C, p.Gly257Arg OLI159
1 disease linked to EDA:c.769G>C, p.Gly257Arg Hypodontia
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