ClinVar Genomic variation as it relates to human health
NM_080916.3(DGUOK):c.255del (p.Ala86fs)
Germline
Classification
(2)
Pathogenic
criteria provided, single submitter
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 | |||
DGUOK | - | - |
GRCh38 GRCh37 |
227 | 360 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 1, 2001 | RCV000008631.4 | |
Pathogenic (1) |
|
Nov 1, 2016 | RCV000726828.4 |
Citations for germline classification of this variant
HelpText-mined citations for rs886037613 ...
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 Jun 17, 2023
NCBI staff reviewed the sequence reported in Figure 3 of the paper by Mandel et al., 2001(PubMed 11687800) to determine the location of this deletion.