IthaID: 2459

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 105 CTC>CAC [Leu>His] HGVS Name: HBG2:c.317T>A
Hb Name: Hb F-Brugine/Feldkirch Protein Info: Gγ 105(G7) Leu>His

Also known as:

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 43326
Size: 1 bp
Located at:
Specific Location: Exon 2

Other details

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

Publications / Origin

  1. Saller E, Kohne E, Dutly F, Frischknecht H, A new (G)γ-globin variant causing low oxygen affinity: Hb F-Brugine/Feldkirch [(G)γ105(G7)Leu→His; HBG2: c.317T>A]., Hemoglobin , 38(2), 84-7, 2014
Created on 2014-06-03 12:48:12, Last reviewed on (Show full history)

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