IthaID: 2285

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 20 CAC>CCC HGVS Name: HBA1:c.62A>C
Hb Name: Hb Fulton-Georgia Protein Info: α1 20(B1) His>Pro

Also known as:

External Links

No available links


Chromosome: 16
Locus: NG_000006.1
Locus Location: 37641
Size: 1 bp
Located at: α1
Specific Location: Exon 1


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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: African-American
Inheritance: Recessive
DNA Sequence Determined: No

Sequence Viewer

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Publications / Origin

  1. Zhuang L, Patel N, Bryant S, Kutlar A, Kutlar F, Young AN, Hb Fulton-Georgia [α20(B1)His→Pro; HBA1: c.62A>C]: A New α-Globin Variant Coinherited with α-Thalassemia-2 (3.7 kb deletion) and Hb SC Disease., Hemoglobin , 37(5), 481-5, 2013 PubMed
Created on 2013-10-09 14:49:51, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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