Details for NOS3:c.2693G>C, p.Arg898Pro

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
150707692151010604
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE NOS3
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_000603.5
CDNA CHANGE c.2693G>C
PROTEIN CHANGE p.Arg898Pro
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.047086Polymorphism
DBSNP ID rs749040665
1 combination linked to NOS3:c.2693G>C, p.Arg898Pro OLI715
1 disease linked to NOS3:c.2693G>C, p.Arg898Pro Isolated anencephaly
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