Details for KATNIP:c.3756dupC, p.Arg1253GlnfsTer5

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
2777285827761537
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE KATNIP
REFERENCE ALLELE C
ALTERNATE ALLELE CC
TRANSCRIPT NM_015202.2
CDNA CHANGE c.3756dupC
PROTEIN CHANGE p.Arg1253GlnfsTer5
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.315725Disease causing
DBSNP ID NA
1 combination linked to KATNIP:c.3756dupC, p.Arg1253GlnfsTer5 OLI640
1 disease linked to KATNIP:c.3756dupC, p.Arg1253GlnfsTer5 Joubert syndrome
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