IthaID: 1563


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -109 G>T HGVS Name: HBG2:c.-162A>C
Hb Name: N/A Protein Info: N/A

Also known as: Greek non-deletional HPFH

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 42726
Size: 1 bp
Located at:
Specific Location: Promoter

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Promoter (Transcription)
Ethnic Origin: Greek
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Chassanidis C, Kalamaras A, Phylactides M, Pourfarzad F, Likousi S, Maroulis V, Papadakis MN, Vamvakopoulos NK, Aleporou-Marinou V, Patrinos GP, Kollia P, The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter., Annals of hematology, 88(6), 549-55, 2009
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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