ClinVar Genomic variation as it relates to human health
NM_000747.3(CHRNB1):c.13G>A (p.Ala5Thr)
Germline
Classification
(2)
Uncertain significance
criteria provided, multiple submitters, no conflicts
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 | |||
CHRNB1 | - | - |
GRCh38 GRCh38 GRCh37 |
460 | 506 | |
LOC130060147 | - | - | - |
GRCh38 GRCh38 |
- | 28 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 18, 2023 | RCV002895053.2 | |
Uncertain significance (1) |
|
Aug 21, 2023 | RCV003348923.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024