IthaID: 1565



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -211 C>T HGVS Name: HBG1:c.-264C>T
Hb Name: N/A Protein Info: Aγ nt -211 C>T

Context nucleotide sequence:
CTATAAAAAAAATTAGCAGTATCCT [C/T] TTGGGGGCCCCTTCCCCACACTATC (Strand: -)

Also known as: Venezuelan non-deletional HPFH

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External 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: 47548
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: African
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!

Created on 2010-06-16 16:13:17, Last reviewed on 2014-04-16 17:51:21 (Show full history)

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