IthaID: 1049


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 75 (-CTG) HGVS Name: HBB:c.226_228delCTG
Hb Name: Hb Vicksburg Protein Info: β 75(E19) Leu->0

Context nucleotide sequence:
AGTGCTCGGTGCCTTTAGTGATGGC [-/CTG] GCTCACCTGGACAACCTCAAGGGCA (Strand: -)

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70950
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: African
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Adams JG, Steinberg MH, Newman MV, Morrison WT, Benz EJ, Iyer R, beta-Thalassemia present in cis to a new beta-chain structural variant, Hb Vicksburg [beta 75 (E19)Leu leads to 0]., Proceedings of the National Academy of Sciences of the United States of America, 78(1), 469-73, 1981
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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