Details for GJB2:c.638T>C, p.Leu213Ser

CHROMOSOME 13
GENOMIC COORDINATES
hg19hg38
2076308320188944
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE GJB2
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_004004.5
CDNA CHANGE c.638T>C
PROTEIN CHANGE p.Leu213Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.023836Disease causing
DBSNP ID NA
2 combinations linked to GJB2:c.638T>C, p.Leu213Ser OLI135; OLI136
1 disease linked to GJB2:c.638T>C, p.Leu213Ser Non-syndromic genetic deafness
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