IthaID: 3231
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 7 (-3bp): (-GAG) | HGVS Name: | HBD:c.22_24delGAG |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
TGGTGCATCTGACTCCTGAG [GAG/-] AAGACTGCTGTCAATGCCCT (Strand: +)
Also known as:
Comments: Found in one case after haematological and mutation spectrum analysis of δ-globin gene in Chinese Han prenatal population [PMID: 28592066]. One additional case was reported in a 41-year-old Chinese male presented with normal haematological indices.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δ-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 63204 |
| Size: | 3 bp |
| Located at: | δ |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Insertion/Deletion of codons (Protein Structure) |
| Ethnic Origin: | Chinese Han |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Zhong LY, Xie YJ, Chen PS, Feng YW, Liu M, Huang B, He XH, Gan X, [Analysis of haematological phenotype and mutation spectrum of δ-globin gene from Guangdong area in Chinese Han prenatal population]., Zhonghua Yi Xue Za Zhi , 97(20), 1580-1583, 2017
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Li, Youqiong | 2021-04-12 | Report of an update. |
Created on 2017-07-11 15:48:01,
Last reviewed on 2022-09-15 11:55:23 (Show full history)
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