ClinVar Genomic variation as it relates to human health
NM_001283.5(AP1S1):c.18A>G (p.Leu6=)
Germline
Classification
(2)
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 | |||
AP1S1 | - | - |
GRCh38 GRCh37 |
56 | 162 | |
LOC126860125 | - | - | - | GRCh38 | - | 76 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jan 27, 2024 | RCV002628703.3 | |
AP1S1-related disorder
|
Likely benign (1) |
|
Jul 24, 2019 | RCV003953947.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024