Details for NOS3:c.2753T>G, p.Phe918Cys

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
150707752151010664
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE NOS3
REFERENCE ALLELE T
ALTERNATE ALLELE G
TRANSCRIPT NM_000603.5
CDNA CHANGE c.2753T>G
PROTEIN CHANGE p.Phe918Cys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.692e-050.00.00.00.00.03.768e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.370773Polymorphism
DBSNP ID rs781651166
1 combination linked to NOS3:c.2753T>G, p.Phe918Cys OLI722
1 disease linked to NOS3:c.2753T>G, p.Phe918Cys Isolated anencephaly

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