ClinVar Genomic variation as it relates to human health
NM_000089.4(COL1A2):c.67C>T (p.Gln23Ter)
Germline
Classification
(1)
not provided
no classification 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 | |||
COL1A2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
2087 | 2110 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
not provided (1) |
|
- | RCV003988627.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024