Details for PRPF31:c.358_359del, p.Lys120GlufsTer4

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
5462590954122530
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_corrected
GENE PRPF31
REFERENCE ALLELE CAA
ALTERNATE ALLELE C
TRANSCRIPT NM_015629.4
CDNA CHANGE c.358_359del
PROTEIN CHANGE p.Lys120GlufsTer4
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.817016Disease causing
DBSNP ID NA
1 combination linked to PRPF31:c.358_359del, p.Lys120GlufsTer4 OLI446
1 disease linked to PRPF31:c.358_359del, p.Lys120GlufsTer4 Retinitis pigmentosa
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