Details for GJB2:c.235delC, p.Leu79fs

CHROMOSOME 13
GENOMIC COORDINATES
hg19hg38
2076348520189346
VARIANT EFFECT None
ANNOTATION FLAG None
GENE GJB2
REFERENCE ALLELE AG
ALTERNATE ALLELE A
TRANSCRIPT NM_004004.5
CDNA CHANGE c.235delC
PROTEIN CHANGE p.Leu79fs
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.860717Disease causing
DBSNP ID NA
5 combinations linked to GJB2:c.235delC, p.Leu79fs OLI1313; OLI1314; OLI1315; OLI1317; OLI1318
1 disease linked to GJB2:c.235delC, p.Leu79fs Rare genetic deafness

Found any issues with the data on this page? Report this entry.