IthaID: 3692



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 35 (TAC>TA-) HGVS Name: HBB:c.108delC
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGG [C/-] AAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGG (Strand: -)

Also known as:

Comments: Found in two Malay individuals presented with severe microcytosis (MCV: 63, 47.2 fL) and hypocromia (MCH: 19, 14.2 pg) and also with moderate anemia. Both patients showed elevated level of Hb A2 level (5.8, 5.1 %).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70832
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Malay
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To the best of our knowledge, this is unpublished data.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!

Microattributions

A/AContributor(s)DateComments
1Zilfalil, Bin Alwi2020-10-20First report.
2Mohd Yasin, Norafiza 2020-10-20First report.
Created on 2020-10-27 14:31:19, Last reviewed on (Show full history)

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