IthaID: 1366

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 47 GAT>GTT HGVS Name: HBD:c.143A>T
Hb Name: Hb A2-Parkville Protein Info: δ 47(CD6) Asp>Val

Context nucleotide sequence:

Protein sequence:

Also known as:


Chromosome: 11
Locus: NG_000007.3
Locus Location: 63453
Size: 1 bp
Located at: δ
Specific Location: Exon 2


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: δ-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: Italian
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Leung H, Gilbert AT, Fleming PJ, Wong J, Hughes WG, Hussein S, Nash AR, Hb A2-Parkville or delta 47(CD6)Asp----Val, a new delta chain variant., Hemoglobin, 15(5), 407-16, 1991
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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