Details for PLXNA1:c.5550C>A, p.Ser1850Arg

CHROMOSOME 3
GENOMIC COORDINATES
hg19hg38
126751634127032791
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE PLXNA1
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_032242.3
CDNA CHANGE c.5550C>A
PROTEIN CHANGE p.Ser1850Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.228615Polymorphism
DBSNP ID rs1259524882
1 combination linked to PLXNA1:c.5550C>A, p.Ser1850Arg OLI652
1 disease linked to PLXNA1:c.5550C>A, p.Ser1850Arg Congenital hypogonadotropic hypogonadism
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