IthaID: 1483

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 97 CAT>CGT HGVS Name: HBG1:c.293A>G
Hb Name: Hb F-Dickinson Protein Info: Aγ 97(FG4) His>Arg

Context nucleotide sequence:

Protein sequence:

Also known as:


Chromosome: 11
Locus: NG_000007.3
Locus Location: 48226
Size: 1 bp
Located at:
Specific Location: Exon 2


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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: African, Caucasian
Inheritance: Recessive
DNA Sequence Determined: No

Sequence Viewer

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Publications / Origin

  1. Schneider RG, Haggard ME, Gustavson LP, Brimhall B, Jones RT, Genetic haemoglobin abnormalities in about 9000 Black and 7000 White newborns; haemoglobin F Dickinson (Agamma97His-Arg), a new variant., British journal of haematology, 28(4), 515-24, 1974 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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