IthaID: 3358

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs2297339 HGVS Name: NG_012002.1:g.5046C>T

Context nucleotide sequence:

Also known as:  C32T, -162C>T

Comments: C32T of HBS1L exon 1 is a putative E-box motif. The C allele associated with elevated HbF levels among Thai-Chinese β0-thalassaemia/Hb E patients with Gγ-globin XmnI (-/-) and XmnI (+/-) polymorphisms.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]


Chromosome: 6
Locus: NG_012002.1
Locus Location: 5046
Size: 1 bp
Located at: HBS1L
Specific Location: 5'UTR

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: 5'UTR (Transcription)
Ethnic Origin: Thai-Chinese
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Pandit RA, Svasti S, Sripichai O, Munkongdee T, Triwitayakorn K, Winichagoon P, Fucharoen S, Peerapittayamongkol C, Association of SNP in exon 1 of HBS1L with hemoglobin F level in beta0-thalassemia/hemoglobin E., Int. J. Hematol. , 88(4), 357-61, 2008 PubMed
Created on 2019-03-27 13:48:03, Last reviewed on (Show full history)

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