ClinVar Genomic variation as it relates to human health
NM_022051.3(EGLN1):c.861G>C (p.Leu287=)
Germline
Classification
(1)
Likely 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 | |||
EGLN1 | - | - |
GRCh38 GRCh37 |
980 | 1084 | |
LOC129932769 | - | - | - | GRCh38 | - | 81 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Apr 19, 2024 | RCV004622402.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 11, 2024