Details for HS6ST1:c.187C>G, p.His63Asp

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
129075951128318377
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE HS6ST1
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_004807.2
CDNA CHANGE c.187C>G
PROTEIN CHANGE p.His63Asp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0049420.0027810.010780.0024470.0047490.0058610.0032340.00340.006387

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging2.806157Polymorphism
DBSNP ID rs61732017
1 combination linked to HS6ST1:c.187C>G, p.His63Asp OLI650
1 disease linked to HS6ST1:c.187C>G, p.His63Asp Congenital hypogonadotropic hypogonadism
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