Details for HS6ST1:c.916C>T, p.Arg306Trp

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
129026056128268482
VARIANT EFFECT missense
ANNOTATION FLAG manually_corrected
GENE HS6ST1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_004807.3
CDNA CHANGE c.916C>T
PROTEIN CHANGE p.Arg306Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
9.343e-050.00013230.00.00.00011194.704e-054.493e-050.00033460.0003617

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.250351Disease causing
DBSNP ID rs780352591
1 combination linked to HS6ST1:c.916C>T, p.Arg306Trp OLI367
1 disease linked to HS6ST1:c.916C>T, p.Arg306Trp Kallmann syndrome
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