IthaID: 1574
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -114 to -102 | HGVS Name: | HBG1:c.-167_-155delCAATAGCCTTGAC |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
ATGGGTTGGCCAGCCTTGCCTTGAC [-/CAATAGCC] AAGGCAAACTTGACCAATAGTCTTA (Strand: -)
Also known as: 13 bp deletion , Black non-deletional HPFH
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | HPFH |
|---|---|
| Hemoglobinopathy Subgroup: | HPFH |
| Allele Phenotype: | HPFH |
| Associated Phenotypes: | Hb F levels [HP:0011904] [OMIM:141749] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 47645 |
| Size: | 1 bp |
| Located at: | Aγ |
| Specific Location: | Promoter |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Promoter (Transcription) |
| Ethnic Origin: | African |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Gilman JG, Mishima N, Wen XJ, Stoming TA, Lobel J, Huisman TH, Distal CCAAT box deletion in the A gamma globin gene of two black adolescents with elevated fetal A gamma globin., Nucleic acids research, 16(22), 10635-42, 1988
Created on 2010-06-16 16:13:17,
Last reviewed on 2013-10-15 17:28:32 (Show full history)
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