ClinVar Genomic variation as it relates to human health
NC_000016.10:g.(?_28878652)_(28904225_?)del
Germline
Classification
(1)
Pathogenic
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 | |||
ATP2A1 | - | - |
GRCh38 GRCh37 |
771 | 970 | |
ATP2A1-AS1 | - | - | - | GRCh38 | - | 97 |
LOC130058740 | - | - | - | GRCh38 | - | 59 |
LOC130058741 | - | - | - | GRCh38 | - | 59 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
May 12, 2018 | RCV000526455.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024