Details for PROKR2:c.239G>A, p.Arg80His

CHROMOSOME 20
GENOMIC COORDINATES
hg19hg38
52947775314131
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE PROKR2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_144773.3
CDNA CHANGE c.239G>A
PROTEIN CHANGE p.Arg80His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
2.783e-056.152e-058.673e-050.00.00.01.758e-050.03.266e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.058327Disease causing
DBSNP ID rs768671137
2 combinations linked to PROKR2:c.239G>A, p.Arg80His OLI1342; OLI868
1 disease linked to PROKR2:c.239G>A, p.Arg80His Kallmann syndrome
Found any issues with the data on this page? Report this entry.