|
Functionality:
|
Globin gene causative mutation |
Pathogenicity:
|
N/A |
|
Common Name:
|
--CANT |
HGVS Name:
|
NC_000016.10:g.(168531_169756)_(182770_183028)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 father and his two children from Northern Spain. They were clinically asymptomatic with a slight microcytic anaemia. Restriction enzyme digestion was used to approximate positions of breakpoints. The 5 ’breakpoint is localised upstream of the HBA2 gene, in a region that harbors the HBAP1 gene, between the restriction enzyme sites AccI (168531) and HpaI (169756). More evidence is needed to accurate whether or not the HBAP1 gene is deleted. The 3’ breakpoint is localized upstream of the HBQ1 gene, presumably between the restriction enzyme sites HindIII (182770) and BamHI (183028) (coordinates: GRCh38.p12, NC_000016.10). As the breakpoints are not clearly defined, the deletion size shown on the sequence viewer is just an approximation.
