IthaID: 3486



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: CD 314 GAA>GA- HGVS Name: NG_013087.1:g.7172delA

Also known as: c.942delA

Comments: Found in a homozygous state in Iranian β-thalassaemia intermedia patients with no mutations detected in the HBA and HBB genes, and presenting with elevated HbF levels (≥60%).

External Links

No available links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]

Location

Chromosome: 19
Locus: NG_013087.1
Locus Location: 7172
Size: 1 bp
Located at: KLF1
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Iranian
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Tamaddoni A, Khabaz Astaneh S, Tabaripour R, Akhavan-Niaki H, Gene Mutations in Thalassemia Patients from North Iran: Report of a New Mutation Associated with β-Thalassemia Intermedia., Hemoglobin, 43(1), 12-17, 2019 PubMed
Created on 2019-11-05 15:23:35, Last reviewed on (Show full history)

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