IthaID: 1556



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: -200 +C HGVS Name: HBG2:c.-253_254insC
Hb Name: N/A Protein Info: N/A

Also known as: Tunisian non-deletional HPFH

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 42635
Size: 1 bp
Located at:
Specific Location: Promoter 0

Phenotype

Hemoglobinopathy Group: HPFH
Hemoglobinopathy Subgroup: HPFH
Allele Phenotype:HPFH
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Promoter (Transcription)
Ethnic Origin: Tunisian
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Pissard S, M'rad A, Beuzard Y, Roméo PH, A new type of hereditary persistence of fetal haemoglobin (HPFH): HPFH Tunisia beta + (+C-200)G gamma., British journal of haematology, 95(1), 67-72, 1996 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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