IthaID: 1550


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Dutch V HGVS Name: NC_000011.10:g.(5269965_5275919)_(5409809_5430375)del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: As presented in the manuscript of Harteveld CL et al., 2005 (PMID: 15894596) the 5' breakpoint of the deletions is located between the positions 5269857 and 5276017 (probes 13-14) while the 3' breakpoint between the 5409809 and 5430375 (probes 37-38). According to the newest version of the MRC-Holland (SALSA® MLPA® Probemix P102-D1 HBB), the 5' breakpoint is limited between HBE1 probe 05813-L05317 and HBB-HS1 REGION probe 12189-L30182. The 3' breakpoint cannot be defined because the breakpoint extends beyond the MLPA probes, therefore the last probe of the kit OR51M1 probe 18247-SP0630-L27000 is deleted. The HGVS name presented is a combination of the two sources and covers approximately 160 kb.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: εγδβ-thalassaemia
Allele Phenotype:(εGγAγδβ)0
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 160 kb
Deletion involves: βLCR, OR51B5, OR51B6, OR51M1, OR51B2, OR51B4

Other details

Type of Mutation: Deletion
Ethnic Origin: Dutch
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Harteveld CL, Voskamp A, Phylipsen M, Akkermans N, den Dunnen JT, White SJ, Giordano PC, Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification., Journal of medical genetics, 42(12), 922-31, 2005
  2. Thein SL, The molecular basis of β-thalassemia., Cold Spring Harb Perspect Med , 3(5), a011700, 2013
Created on 2010-06-16 16:13:17, Last reviewed on 2022-10-12 10:51:48 (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.