IthaID: 3632


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 76/77 (+T) HGVS Name: HBB:c.231_232insT
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
ACGCCGTGGCGCACGTGGACGACATG [-/T] CCCAACGCGCTGTCCGCCCTGAGCG (Strand: -)

Also known as:

Comments: Found together with Hb Sallanches (HBA2:c.314G>A) and polyA (HBA2:c.*93_*94delAA) in two subjects with HbH disease. The insertion of a nt T in codons 76/77 causes a frameshift mutation. Source: doi.org/10.1182/blood.V124.21.1358.1358

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:N/A
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34123
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Indian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!

Created on 2020-09-28 13:01:02, Last reviewed on (Show full history)

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