IthaID: 4064
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD109/110 (-GCT +CAGCACGATG) | HGVS Name: | HBB:c.330_332delinsCAGCACGATG |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
TTATCTTCCTCCCACAGCTCCTGGGCAACGT [-/CAGCACGATG] GGTCTGTGTGCTGGCCCATCACTTTGGCAAA (Strand: -)
Comments: Found in a female newborn together with Hb Zurich-Langstrasse, HBB:c.[151A>T;316-197C>T], by DNA sequencing. CBC: Hb 17.4 g/dL, MCV 99.0 fL, MCH 33.9 pg, MCHC 343 g/L. CE: Hb F 100%.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71904 |
| Size: | 3 bp |
| Located at: | β |
Other details
| Type of Mutation: | Insertion & Deletion |
|---|---|
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
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Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Li, Youqiong | 2023-07-31 | First report. |
Created on 2023-08-04 09:40:55,
Last reviewed on (Show full history)
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