IthaID: 3598

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 93/94 (-TG) [Cys>STOP] HGVS Name: HBD:c.282_283delTG
Hb Name: N/A Protein Info: p.Cys93Stop

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Found in a 38-years old pregnant Spanish woman with normal clinical presentation. The 2-bp deletion creates a premature stop codon at the 93 amino acid. Hb X was not visible using HPLC but HbA2 was slightly low (1.3%).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: N/A
Allele Phenotype:δ0
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 63592
Size: 2 bp
Located at: δ
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Nonsense codon (Translation)
Ethnic Origin: Spanish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data.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

Created on 2020-06-30 15:04:19, Last reviewed on 2020-06-30 15:06:06 (Show full history)

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