Details for KISS1R:c.149C>A, p.Ala50Glu

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
917651917651
VARIANT EFFECT None
ANNOTATION FLAG None
GENE KISS1R
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.149C>A
PROTEIN CHANGE p.Ala50Glu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
9.995e-060.00.00.00.00.02.351e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging2.100318Polymorphism
DBSNP ID NA
1 combination linked to KISS1R:c.149C>A, p.Ala50Glu OLI1345
1 disease linked to KISS1R:c.149C>A, p.Ala50Glu Kallmann syndrome
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