Details for NOS1:c.2483G>A, p.Cys828Tyr

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
117696250117258445
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE NOS1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000620.4
CDNA CHANGE c.2483G>A
PROTEIN CHANGE p.Cys828Tyr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.0020.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00011220.00.00.00.0015580.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.39983Polymorphism
DBSNP ID rs200144876
1 combination linked to NOS1:c.2483G>A, p.Cys828Tyr OLI853
1 disease linked to NOS1:c.2483G>A, p.Cys828Tyr Kallmann syndrome
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