ClinVar Genomic variation as it relates to human health
NM_005173.4(ATP2A3):c.15T>C (p.His5=)
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 | |||
ATP2A3 | - | - |
GRCh38 GRCh37 |
103 | 144 | |
LOC130060006 | - | - | - | GRCh38 | - | 19 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
ATP2A3-related disorder
|
Benign (1) |
|
Oct 31, 2019 | RCV003981942.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024