IthaID: 1566


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: -202 C>T HGVS Name: HBG1:c.-255C>T
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
AAATTAGCAGTATCCTCTTGGGGGC [C/T] CCTTCCCCACACTATCTCAATGCAA (Strand: -)

Also known as: Black non-deletional HPFH

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 47557
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
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Publications / Origin

  1. Gilman JG, Mishima N, Wen XJ, Kutlar F, Huisman TH, Upstream promoter mutation associated with a modest elevation of fetal hemoglobin expression in human adults., Blood, 72(1), 78-81, 1988
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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