IthaID: 828

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 6/7(-GAG) HGVS Name: HBB:c.22_24delGAG
Hb Name: Hb Leiden Protein Info: β 6(A3) Glu->0 OR β 7(A4) Glu->0

Context nucleotide sequence:

Also known as:

External Links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70616
Size: 1 bp
Located at: β
Specific Location: Exon 1


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

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: N/A
Ethnic Origin: American | Chinese | Mexican | Netherlands | South African | Yugoslavian
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. De Jong WW, Went LN, Bernini LF, Haemoglobin Leiden: deletion of beta-6 or 7 glutamic acid., Nature, 220(5169), 788-90, 1968
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.