Details for PCSK1:c.239G>A, p.Arg80Gln

CHROMOSOME 5
GENOMIC COORDINATES
hg19hg38
9576496396429259
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE PCSK1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000439.4
CDNA CHANGE c.239G>A
PROTEIN CHANGE p.Arg80Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00740.00.00.03670.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0020950.00.09.925e-050.027350.03.525e-050.00049020.0004902

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.294098Polymorphism
DBSNP ID rs1799904
1 combination linked to PCSK1:c.239G>A, p.Arg80Gln OLI132
2 diseases linked to PCSK1:c.239G>A, p.Arg80Gln MODY; Normosmic congenital hypogonadotropic hypogonadism
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