Details for GNRHR:c.268G>A, p.Glu90Lys

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
6861978667754068
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE GNRHR
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000406.2
CDNA CHANGE c.268G>A
PROTEIN CHANGE p.Glu90Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.581e-050.00.00026020.00.00.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.96538Disease causing
DBSNP ID rs104893844
1 combination linked to GNRHR:c.268G>A, p.Glu90Lys OLI201
1 disease linked to GNRHR:c.268G>A, p.Glu90Lys Normosmic congenital hypogonadotropic hypogonadism
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