ClinVar Genomic variation as it relates to human health
NM_001177382.2(CPEB2):c.859G>T (p.Ala287Ser)
Germline
Classification
(1)
Uncertain significance
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 | |||
CPEB2 | - | - |
GRCh38 GRCh38 GRCh37 |
28 | 132 | |
LOC129992278 | - | - | - |
GRCh38 GRCh38 |
- | 34 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 12, 2021 | RCV004244369.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024