Details for KISS1R:p.Gly56AlafsTer21

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
NoneNone
VARIANT EFFECT frameshift
ANNOTATION FLAG not_found_in_databases
GENE KISS1R
REFERENCE ALLELE None
ALTERNATE ALLELE None
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Gly56AlafsTer21
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNoneNoneNone
DBSNP ID NA
1 combination linked to KISS1R:p.Gly56AlafsTer21 OLI780
1 disease linked to KISS1R:p.Gly56AlafsTer21 Normosmic congenital hypogonadotropic hypogonadism

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