IthaID: 2301

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: -197 C>T HGVS Name: HBG1:c.-250C>T
Hb Name: N/A Protein Info: Aγ nt -197 C>T

Also known as:

External Links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 47562
Size: 1 bp
Located at:
Specific Location: Promoter


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(Substitution)
Effect on Gene/Protein Function: Promoter (Transcription)
Ethnic Origin: Black African, Italian
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Toma S, Tenorio M, Oakley M, Thein SL, Clark BE, Two Novel Mutations (HBG1: c.-250CT and HBG2: c.-250CT) Associated With Hereditary Persistence of Fetal Hemoglobin., Hemoglobin , 2013 PubMed
  2. Amato A, Cappabianca MP, Perri M, Zaghis I, Grisanti P, Ponzini D, Di Biagio P, Interpreting elevated fetal hemoglobin in pathology and health at the basic laboratory level: new and known γ- gene mutations associated with hereditary persistence of fetal hemoglobin., Int J Lab Hematol , 2013 PubMed
Created on 2014-01-08 15:21:31, Last reviewed on 2014-01-16 12:54:51 (Show full history)

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