Details for NEK1:c.1381delA, p.Arg461fs

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
170459038169537887
VARIANT EFFECT None
ANNOTATION FLAG None
GENE NEK1
REFERENCE ALLELE CT
ALTERNATE ALLELE C
TRANSCRIPT NM_001199399
CDNA CHANGE c.1381delA
PROTEIN CHANGE p.Arg461fs
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNoneNoneDisease causing
DBSNP ID NA
1 combination linked to NEK1:c.1381delA, p.Arg461fs OLI954
1 disease linked to NEK1:c.1381delA, p.Arg461fs Amyotrophic lateral sclerosis
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