IthaID: 1554



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -567 T>G HGVS Name: HBG2:c.-620T>G
Hb Name: N/A Protein Info: N/A

Also known as: Iranian 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: 42268
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: Iranian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Chen Z, Luo HY, Basran RK, Hsu TH, Mang DW, Nuntakarn L, Rosenfield CG, Patrinos GP, Hardison RC, Steinberg MH, Chui DH, A T-to-G transversion at nucleotide -567 upstream of HBG2 in a GATA-1 binding motif is associated with elevated hemoglobin F., Molecular and cellular biology, 28(13), 4386-93, 2008 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2017-11-08 17:32:44 (Show full history)

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