Details for KISS1R:c.555del, p.Pro187ArgfsTer132

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
919920919920
VARIANT EFFECT None
ANNOTATION FLAG None
GENE KISS1R
REFERENCE ALLELE AC
ALTERNATE ALLELE A
TRANSCRIPT NM_032551.5
CDNA CHANGE c.555del
PROTEIN CHANGE p.Pro187ArgfsTer132
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone2.700781None
DBSNP ID NA
1 combination linked to KISS1R:c.555del, p.Pro187ArgfsTer132 OLI1264
1 disease linked to KISS1R:c.555del, p.Pro187ArgfsTer132 Normosmic congenital hypogonadotropic hypogonadism
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