
IthaID: 174
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
---|---|---|---|
Common Name: | CD 66 AAA>TAA [Lys>STOP] | HGVS Name: | HBB:c.199A>T |
Hb Name: | N/A | Protein Info: | N/A |
Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CCCTAAGGTGAAGGCTCATGGCAAG [A>T] AAGTGCTCGGTGCCTTTAGTGATGGCC (Strand: -)
Comments: Reported in two unrelated cases of beta-thalassemia.
Phenotype
Hemoglobinopathy Group: | Thalassaemia |
---|---|
Hemoglobinopathy Subgroup: | β-thalassaemia |
Allele Phenotype: | β0 |
Associated Phenotypes: | N/A |
Location
Chromosome: | 11 |
---|---|
Locus: | NG_000007.3 |
Locus Location: | 70923 |
Size: | 1 bp |
Located at: | β |
Specific Location: | Exon 2 |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
---|---|
Effect on Gene/Protein Function: | Nonsense codon (Translation) |
Ethnic Origin: | N/A |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Waye JS, Hanna M, Hohenadel BA, Nakamura L, Walker L, Eng B, Nfonsam LE, β-Thalassemia Caused by a Novel Nonsense Mutation [c.199A > T]., Hemoglobin, 2024
Microattributions
A/A | Contributor(s) | Date | Comments |
---|---|---|---|
1 | Waye, John S. | 2023-08-08 | First report. |
Created on 2010-06-16 16:13:15,
Last reviewed on 2024-04-04 09:18:41 (Show full history)
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