IthaID: 2165



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Puerto Rican (εγδβ)0 HGVS Name: NG_000007.3:g.2904_25432del
Hb Name: N/A Protein Info: N/A

Also known as:

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: 2904
Size: 22.529 kb
Deletion involves: βLCR

Other details

Type of Mutation: Deletion
Ethnic Origin: Puerto Rican
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Koenig SC, Becirevic E, Hellberg MS, Li MY, So JC, Hankins JS, Ware RE, McMahon L, Steinberg MH, Luo HY, Chui DH, Sickle cell disease caused by heterozygosity for Hb S and novel LCR deletion: Report of two patients., Am. J. Hematol. , 84(9), 603-6, 2009 PubMed
Created on 2013-09-30 11:16:04, Last reviewed on 2022-05-30 12:02:00 (Show full history)

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