IthaID: 2400
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 7 GAG>CAG [Glu>Gln] | HGVS Name: | HBB:c.22G>C |
| Hb Name: | Hb Vellore | Protein Info: | β 7(A4) Glu>Gln |
| Also known as: | Hb Bellevue III |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CACCATGGTGCATCTGACTCCTGAG [A/C/G] AGAAGTCTGCCGTTACTGCCCTGTG (Strand: -)
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70616 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | African-American |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Edison ES, Sathya M, Rajkumar SV, Nair SC, Srivastava A, Shaji RV, A novel β-globin gene mutation HBB.c.22 G>C produces a hemoglobin variant (Hb Vellore) mimicking HbS in HPLC., Int J Lab Hematol , 34(5), 556-8, 2012
Created on 2014-05-27 10:42:31,
Last reviewed on (Show full history)
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