ClinVar Genomic variation as it relates to human health
NC_000016.10:g.173151A>T
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 | |||
HBA1 | - | - |
GRCh38 GRCh37 |
5 | 392 | |
HBA2 | - | - |
GRCh38 GRCh37 |
4 | 346 | |
LOC106804612 | - | - | - | GRCh38 | - | 283 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
HEMOGLOBIN KANAGAWA
|
other (1) |
|
Jan 1, 1992 | RCV000017189.12 |
Pathogenic (1) |
|
Jan 1, 1992 | RCV000641239.10 |
Citations for germline classification of this variant
HelpText-mined citations for rs281864828 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Oct 13, 2024
The allelic variant record from OMIM describes this as a variant in HBA1, but HbVar and Swiss-Prot define the variant as in HBA2. ClinVar updated its representation of the allele to be consistent with HbVar.