IthaID: 3025



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: -114 C>G HGVS Name: HBG1:c.-167C>G
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
ATGGGTTGGCCAGCCTTGCCTTGAC [C>G] AATAGCCTTGACAAGGCAAACTTGA (Strand: +)

Also known as: African-American/Hispanic non-deletional HPFH

Comments: Subject presented with Hb S-beta(+) thalassaemia and elevated HbF.

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 47645
Size: 1 bp
Located at:
Specific Location: Promoter

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(Substitution)
Effect on Gene/Protein Function: Promoter (Transcription)
Ethnic Origin: African American/Hispanic
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Akinbami AO, Campbell AD, Han ZJ, Luo HY, Chui DH, Steinberg MH, Hereditary Persistence of Fetal Hemoglobin Caused by Single Nucleotide Promoter Mutations in Sickle Cell Trait and Hb SC Disease., Hemoglobin , 40(1), 64-5, 2016 PubMed
Created on 2016-08-26 08:50:44, Last reviewed on 2016-08-26 10:50:39 (Show full history)

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