Details for PROKR2:c.802C>T, p.Arg268Cys

CHROMOSOME 20
GENOMIC COORDINATES
hg19hg38
52830395302393
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE PROKR2
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_144773.3
CDNA CHANGE c.802C>T
PROTEIN CHANGE p.Arg268Cys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.01260.04460.00580.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0039110.046250.0030360.0042670.00.00013870.00044870.0039110.000196

ESP
AAEA
0.042220.0005814
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.029314Polymorphism
DBSNP ID rs78861628
4 combinations linked to PROKR2:c.802C>T, p.Arg268Cys OLI208; OLI285; OLI286; OLI689
2 diseases linked to PROKR2:c.802C>T, p.Arg268Cys Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome

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