Details for TMPRSS3:c.579dupA, p.Cys194MetfsTer17

CHROMOSOME 21
GENOMIC COORDINATES
hg19hg38
4380411542384006
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE TMPRSS3
REFERENCE ALLELE A
ALTERNATE ALLELE AT
TRANSCRIPT ENST00000291532.3
CDNA CHANGE c.579dupA
PROTEIN CHANGE p.Cys194MetfsTer17
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.583e-050.00.00.00.00.07.92e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone3.713941Disease causing
DBSNP ID rs397517376
1 combination linked to TMPRSS3:c.579dupA, p.Cys194MetfsTer17 OLI060
1 disease linked to TMPRSS3:c.579dupA, p.Cys194MetfsTer17 Non-syndromic genetic deafness
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