ClinVar Genomic variation as it relates to human health
NM_014495.4(ANGPTL3):c.1122G>A (p.Pro374=)
Germline
Classification
(1)
Benign
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 | |||
ANGPTL3 | - | - |
GRCh38 GRCh37 |
- | 118 | |
DOCK7 | - | - |
GRCh38 GRCh37 |
1566 | 1708 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Dec 30, 2023 | RCV002943537.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024