|
Functionality:
|
Globin gene causative mutation |
Pathogenicity:
|
N/A |
|
Common Name:
|
--SPAN |
HGVS Name:
|
NC_000016.10:g.(169756_170100)_(179044_181595)del |
|
Hb Name:
|
N/A |
Protein Info:
|
N/A |
|
Also known as:
|
|
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The deletion was reported in a Spanish family with 4 members having α1-thalassaemia (--/αα) and 3 members having Hb H disease (--/-α). Restriction enzyme digestion was used to approximate positions of breakpoints. The 5’breakpoint is localised upstream of the HBA2 gene between the restriction enzyme sites HpaI (169756) and SstI (170100). The 3’ breakpoint is localised to a 2.5-kb region that harbors the HBQ1 gene between the restriction enzyme sites EcoRI (179044) and Asp718 (181595) (coordinates: GRCh38.p12, NC_000016.10). More evidence is needed to accurate whether or not the HBQ1 gene is deleted. As the breakpoints are not clearly defined, the deletion size shown on the sequence viewer is just an approximation.
