
IthaID: 1334
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
---|---|---|---|
Common Name: | IVS I-2 (T>C) | HGVS Name: | HBD:c.92+2T>C |
Hb Name: | N/A | Protein Info: | N/A |
Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
AGTTGGTGGTGAGGCCCTGGGCAGG [C/T] TGGTATCAAGGTTATAAGAGAGGCT (Strand: -)
Phenotype
Hemoglobinopathy Group: | Thalassaemia |
---|---|
Hemoglobinopathy Subgroup: | δ-thalassaemia |
Allele Phenotype: | δ0 |
Associated Phenotypes: | N/A |
Location
Chromosome: | 11 |
---|---|
Locus: | NG_000007.3 |
Locus Location: | 63276 |
Size: | 1 bp |
Located at: | δ |
Specific Location: | Intron 1 |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
---|---|
Effect on Gene/Protein Function: | N/A |
Ethnic Origin: | Italian |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Moi P, Paglietti E, Sanna A, Brancati C, Tagarelli A, Galanello R, Cao A, Pirastu M, Delineation of the molecular basis of delta- and normal HbA2 beta-thalassemia., Blood, 72(2), 530-3, 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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