Details for USH2A:c.4338_4339del, p.Cys1447GlnfsTer29

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
216363621216190279
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE USH2A
REFERENCE ALLELE CAG
ALTERNATE ALLELE C
TRANSCRIPT NM_206933.6
CDNA CHANGE c.4338_4339del
PROTEIN CHANGE p.Cys1447GlnfsTer29
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.989e-060.00.00.00.00.08.826e-060.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.761112Disease causing
DBSNP ID rs111033367
1 combination linked to USH2A:c.4338_4339del, p.Cys1447GlnfsTer29 OLI120
1 disease linked to USH2A:c.4338_4339del, p.Cys1447GlnfsTer29 Usher syndrome type 2
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