Details for PROKR2:c.343G>A, p.Val115Met

CHROMOSOME 20
GENOMIC COORDINATES
hg19hg38
52946735314027
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE PROKR2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_144773.3
CDNA CHANGE c.343G>A
PROTEIN CHANGE p.Val115Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.181e-050.00.00.00.00.08.791e-060.00.0002286

ESP
AAEA
0.00.0002326
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.469619Disease causing
DBSNP ID rs138672528
1 combination linked to PROKR2:c.343G>A, p.Val115Met OLI396
2 diseases linked to PROKR2:c.343G>A, p.Val115Met Isolated congenital hypogonadotropic hypogonadism; Kallmann syndrome
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