Details for NEK1:c.1562+1G>A,

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
170476870169555719
VARIANT EFFECT None
ANNOTATION FLAG None
GENE NEK1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001199397
CDNA CHANGE c.1562+1G>A
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.6505Polymorphism
DBSNP ID NA
1 combination linked to NEK1:c.1562+1G>A, OLI951
1 disease linked to NEK1:c.1562+1G>A, Amyotrophic lateral sclerosis
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