IthaID: 3091


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: CD 290/293 (-12bp) or CD 290/294 (-12bp) HGVS Name: NG_013087.1:g.6842_6853delTACACCAAGAGC | NG_013087.1:g.6843_6854delACACCAAGAGCT

Also known as:

Comments: In frame deletion within the zinc finger domain 1. Identified in Thai subjects with Hb E disorder and high levels of HbF (853 cases; 100 controls).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):Increased expression for Aγ or Gγ
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]

Location

Chromosome: 19
Locus: NG_013087.1
Locus Location: 6842 or 6843
Size: 12 bp or 12 bp
Located at: KLF1
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Tepakhan W, Yamsri S, Sanchaisuriya K, Fucharoen G, Xu X, Fucharoen S, Nine known and five novel mutations in the erythroid transcription factor KLF1 gene and phenotypic expression of fetal hemoglobin in hemoglobin E disorder., Blood Cells Mol. Dis. , 59(0), 85-91, 2016
Created on 2016-09-13 09:55:15, Last reviewed on 2016-09-13 11:13:32 (Show full history)

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