Details for NOS3:c.31C>A, p.Pro11Thr

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
150690922150993834
VARIANT EFFECT missense
ANNOTATION FLAG manually_corrected
GENE NOS3
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_000603.5
CDNA CHANGE c.31C>A
PROTEIN CHANGE p.Pro11Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00037417.115e-050.00.00.09.551e-050.00079170.00.0

ESP
AAEA
0.00.001058
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign1.330593Polymorphism
DBSNP ID rs141170595
1 combination linked to NOS3:c.31C>A, p.Pro11Thr OLI752
1 disease linked to NOS3:c.31C>A, p.Pro11Thr Isolated anencephaly
Found any issues with the data on this page? Report this entry.