Details for NOS2:c.1516C>T, p.Arg506Trp

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
2610023027773204
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE NOS2
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000625.4
CDNA CHANGE c.1516C>T
PROTEIN CHANGE p.Arg506Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.00.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
8.754e-050.00012310.00.00059570.00.00013867.034e-050.0001636.536e-05

ESP
AAEA
0.0002270.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging2.869119Polymorphism
DBSNP ID rs146104261
1 combination linked to NOS2:c.1516C>T, p.Arg506Trp OLI723
1 disease linked to NOS2:c.1516C>T, p.Arg506Trp Isolated anencephaly
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