Details for GNRHR:c.785G>A, p.Arg262Gln

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
6860640067740682
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE GNRHR
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000406.2
CDNA CHANGE c.785G>A
PROTEIN CHANGE p.Arg262Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00.00.0020.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0017860.0001230.00023139.934e-050.00.0053140.0021470.0021240.002156

ESP
AAEA
0.0002270.002209
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.259471Disease causing
DBSNP ID rs104893837
5 combinations linked to GNRHR:c.785G>A, p.Arg262Gln OLI1166; OLI1403; OLI1590; OLI198; OLI199
4 diseases linked to GNRHR:c.785G>A, p.Arg262Gln Hypogonadotropic hypogonadism with absent puberty phenotype; Isolated congenital hypogonadotropic hypogonadism; Kallmann syndrome; Normosmic congenital hypogonadotropic hypogonadism
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