ClinVar Genomic variation as it relates to human health
NM_001876.4(CPT1A):c.1201C>T (p.Arg401Cys)
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 | |||
CPT1A | - | - |
GRCh38 GRCh37 |
964 | 1044 | |
LOC126861244 | - | - | - | GRCh38 | - | 67 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 6, 2022 | RCV002615923.2 | |
Uncertain significance (1) |
|
Apr 30, 2022 | RCV002615922.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024