ClinVar Genomic variation as it relates to human health
NM_004807.3(HS6ST1):c.968G>A (p.Arg323Gln)
Germline
Classification
(1)
risk factor
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
HS6ST1 | - | - |
GRCh38 GRCh37 |
118 | 151 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
risk factor (1) |
|
Jul 12, 2011 | RCV000032894.3 |
Citations for germline classification of this variant
HelpText-mined citations for rs761325768 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Dec 25, 2023
NCBI staff added an HGVS expression for this allele based on the context of the affected Arg codon reported in Figure 1 of the paper by Tornberg et al., 2011 (PubMed 21700882).