Details for GJB2:c.299_300del, p.His100ArgfsTer14

CHROMOSOME 13
GENOMIC COORDINATES
hg19hg38
2076342020189281
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE GJB2
REFERENCE ALLELE CAT
ALTERNATE ALLELE C
TRANSCRIPT NM_004004.8
CDNA CHANGE c.299_300del
PROTEIN CHANGE p.His100ArgfsTer14
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
6.375e-050.00.00.00.000870.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.42933Disease causing
DBSNP ID rs111033204
1 combination linked to GJB2:c.299_300del, p.His100ArgfsTer14 OLI194
1 disease linked to GJB2:c.299_300del, p.His100ArgfsTer14 Non-syndromic genetic deafness
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