ClinVar Genomic variation as it relates to human health
NC_000016.10:g.(?_172913)_(177411_?)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 | |||
HBA1 | - | - |
GRCh38 GRCh37 |
5 | 387 | |
HBA2 | - | - |
GRCh38 GRCh37 |
4 | 343 | |
LOC106804612 | - | - | - | GRCh38 | - | 280 |
LOC106804613 | - | - | - | GRCh38 | 1 | 324 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 2, 2020 | RCV000803268.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022