IthaID: 878

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 23/24 (GTTGGT>GGT) HGVS Name: HBB:c.71_73del
Hb Name: Hb Freiburg Protein Info: β 23(B5) Val->0

Context nucleotide sequence:

Also known as:

Comments: Found in a German women presenting with hemolysis and mild cyanosis, as well as in two of her three children. Not detected in her parents or three siblings. Oxygen affinity and stability tests performed.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70665
Size: 3 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: German
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Jones RT, Brimhall B, Huisman TH, Kleihauer E, Betke K, Hemoglobin Freiburg: abnormal hemoglobin due to deletion of a single amino acid residue., Science (New York, N.Y.), 154(752), 1024-7, 1966 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2019-11-11 15:45:32 (Show full history)

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