Details for NEK1:c.749A>G, p.Asn250Ser

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
170506558169585407
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE NEK1
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_012224.2
CDNA CHANGE c.749A>G
PROTEIN CHANGE p.Asn250Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
8.032e-060.00.00.00.00.01.772e-050.00.0

ESP
AAEA
0.00.0001223
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging2.420981Polymorphism
DBSNP ID rs368762503
1 combination linked to NEK1:c.749A>G, p.Asn250Ser OLI827
1 disease linked to NEK1:c.749A>G, p.Asn250Ser Amyotrophic lateral sclerosis
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