ClinVar Genomic variation as it relates to human health
NM_001374385.1(ATP8B1):c.1029+5T>G
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 | |||
ATP8B1 | - | - |
GRCh38 GRCh37 |
527 | 1102 | |
LOC126862761 | - | - | - | GRCh38 | - | 51 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
ATP8B1-related disorder
|
Likely benign (1) |
|
Oct 17, 2023 | RCV004550901.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 08, 2024