Details for ZNF408:c.1965_1968del, p.Glu656ArgfsTer36

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
4672723646705686
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_corrected
GENE ZNF408
REFERENCE ALLELE CAGAG
ALTERNATE ALLELE C
TRANSCRIPT NM_001184751.2
CDNA CHANGE c.1965_1968del
PROTEIN CHANGE p.Glu656ArgfsTer36
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone2.981008Disease causing
DBSNP ID rs957516023
1 combination linked to ZNF408:c.1965_1968del, p.Glu656ArgfsTer36 OLI314
1 disease linked to ZNF408:c.1965_1968del, p.Glu656ArgfsTer36 Familial exudative vitreoretinopathy
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