Details for NOS2:c.1893C>A, p.Tyr631Ter

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
2609614427769118
VARIANT EFFECT nonsense
ANNOTATION FLAG manually_attributed
GENE NOS2
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT NM_000625.4
CDNA CHANGE c.1893C>A
PROTEIN CHANGE p.Tyr631Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone7.706886Disease causing
DBSNP ID NA
1 combination linked to NOS2:c.1893C>A, p.Tyr631Ter OLI742
1 disease linked to NOS2:c.1893C>A, p.Tyr631Ter Isolated anencephaly
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