ClinVar Genomic variation as it relates to human health
PI NULL(PROCIDA)
Germline
Classification
(2)
Pathogenic; other
no assertion criteria provided
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 | |||
SERPINA1 | - | - |
GRCh38 GRCh38 GRCh37 |
470 | 505 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
other (1) |
|
Jul 15, 2016 | RCV000019584.4 | |
Pathogenic (1) |
|
May 1, 2014 | RCV000203601.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022
NCBI staff reviewed the sequence defining the breakpoints of the deletion (Takahashi and Crystal, 1990, PubMed 1975477, Fig 5) to establish the location of this deletion.