IthaID: 3750

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 115 GCC>ACC [Ala>Thr] HGVS Name: HBB:c.346G>A
Hb Name: N/A Protein Info: β 115(G17) Ala>Thr

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Found in compound heterozygosity with the CD 41/42 (-CTTT) [IthaID: 147] in a 56-year old Chinese male presented with mild anaemia, microcytosis and hypochromia. Data obtained after blood transfusion were Hb 6.4 g/dL, RBC 2.08×1012/L, MCV 93.8 fL and MCH 30.5 pg. Capillary electrophoresis shown reduced HbA 49.3 %, elevated HbF 48.9 % and normal levels of HbA2 1.8%.

External Links

No available links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71920
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data.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


1Li, Youqiong2020-11-25First report.
Created on 2021-02-25 15:35:49, Last reviewed on (Show full history)

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