ClinVar Genomic variation as it relates to human health
NM_004793.4(LONP1):c.306C>A (p.Gly102=)
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 | |||
LOC130063270 | - | - | - | GRCh38 | - | 29 |
LONP1 | - | - |
GRCh38 GRCh37 |
846 | 895 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
LONP1-related disorder
|
Likely benign (1) |
|
Sep 23, 2020 | RCV004534601.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024