ClinVar Genomic variation as it relates to human health
NM_000451.4(SHOX):c.391G>T (p.Glu131Ter)
Germline
Classification
(1)
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 | |||
SHOX |
|
Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 |
156 | 352 |
LOC107652445 | - | - | - |
GRCh38 GRCh38 |
- | 192 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 21, 2022 | RCV002474038.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022