Details for KISS1R:c.587C>A, p.Pro196His

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
919955919955
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE KISS1R
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_032551.4
CDNA CHANGE c.587C>A
PROTEIN CHANGE p.Pro196His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00140.00.00.00690.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00033340.03.353e-050.00.0041720.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.233103Disease causing
DBSNP ID rs572007403
1 combination linked to KISS1R:c.587C>A, p.Pro196His OLI895
1 disease linked to KISS1R:c.587C>A, p.Pro196His Normosmic congenital hypogonadotropic hypogonadism
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