
IthaID: 1338
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
---|---|---|---|
Common Name: | CD 91 (+T) | HGVS Name: | HBD:c.275dupT |
Hb Name: | N/A | Protein Info: | N/A |
Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GCACTTTTTCTCAGCTGAGTGAGC [-/T] GCACTGTGACAAGCTGCACGTGGA (Strand: -)
Comments: The insertion of an extra T nucleotide at codon 91, gives rise to a premature stop codon at position 94 leading to the silencing of the gene.
Phenotype
Hemoglobinopathy Group: | Thalassaemia |
---|---|
Hemoglobinopathy Subgroup: | δ-thalassaemia |
Allele Phenotype: | δ0 |
Associated Phenotypes: | N/A |
Location
Chromosome: | 11 |
---|---|
Locus: | NG_000007.3 |
Locus Location: | 63585 |
Size: | 1 bp |
Located at: | δ |
Specific Location: | Exon 2 |
Other details
Type of Mutation: | Point-Mutation(Insertion) |
---|---|
Effect on Gene/Protein Function: | N/A |
Ethnic Origin: | Belgian |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Losekoot M, Fodde R, Giordano PC, Bernini LF, A novel delta zero-thalassemia arising from a frameshift insertion, detected by direct sequencing of enzymatically amplified DNA., Human genetics, 83(1), 75-8, 1989
Created on 2010-06-16 16:13:17,
Last reviewed on 2021-12-03 12:42:24 (Show full history)
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