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

IthaPhen

Heterozygous records (preview in IthaPhen)

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

Sequence Viewer

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Publications / Origin

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 PubMed
Thein SL, The molecular basis of β-thalassemia., Cold Spring Harb Perspect Med , 3(5), a011700, 2013 PubMed

Created on 2010-06-16 16:13:17, Last reviewed on 2022-10-12 10:51:48 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:17	The IthaGenes Curation Team	Created
2	2013-10-15 17:28:32	The IthaGenes Curation Team	Reviewed.
3	2018-01-15 17:33:09	The IthaGenes Curation Team	Reviewed. Mutation comment added. Reference added.
4	2022-10-12 10:51:48	The IthaGenes Curation Team	Reviewed. HGVS name and comment corrected.

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