IthaID: 3626

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 54 CAG>CAT [Gln>His] HGVS Name: HBA1:c.165G>T
Hb Name: Hb Goole Protein Info: N/A

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Hb variant running at R.T. 2.49min on the BioRad variant II Dual Program.

External Links

No available links


Chromosome: 16
Locus: NG_000006.1
Locus Location: 37861
Size: 1 bp
Located at: α1
Specific Location: Exon 2


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-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: Missense codons (Protein Structure)
Ethnic Origin: British
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!


1Daniel, Yvonne2020-09-07First report.
2Monteiro, Daniel2020-09-07First report.
Created on 2020-09-09 12:14:45, Last reviewed on 2020-09-09 12:25:35 (Show full history)

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