Details for NEK1:c.277A>G, p.Asn93Asp

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
170520286169599135
VARIANT EFFECT None
ANNOTATION FLAG None
GENE NEK1
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE c.277A>G
PROTEIN CHANGE p.Asn93Asp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00060660.00.00.00.00.0063940.00010630.0003310.0

ESP
AAEA
0.00.0001221
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.897939Polymorphism
DBSNP ID NA
1 combination linked to NEK1:c.277A>G, p.Asn93Asp OLI984
1 disease linked to NEK1:c.277A>G, p.Asn93Asp Odontochondrodysplasia
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