Details for EPHA2:c.1063G>A, p.Gly355Arg

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
1646459716138102
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE EPHA2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_004431.4
CDNA CHANGE c.1063G>A
PROTEIN CHANGE p.Gly355Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
5.267e-050.02.899e-050.00.00065710.00.00.00.0

ESP
AAEA
0.00.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.521808Disease causing
DBSNP ID rs370923409
1 combination linked to EPHA2:c.1063G>A, p.Gly355Arg OLI316
1 disease linked to EPHA2:c.1063G>A, p.Gly355Arg Pendred syndrome
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