IthaID: 2110

Names and Sequences

Functionality:	Disease modifying mutation	Pathogenicity:	N/A
Common Name:	rs11759553	HGVS Name:	NC_000006.12:g.135101158A>T

Context nucleotide sequence:
CTGGCTGATTGGGGTAGGCCATAGG [A/T] CAGGACATTTAACATCCCCAAAGGA (Strand: +)

Also known as:

Comments: SNP associated with F-cell numbers in healthy Northern Europeans (TwinUK cohort). It strongly associated with HbF level variation in individuals from China with β-thalassaemia (n=312).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

dbSNP

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	6
Locus:	NT_025741.15
Locus Location:	N/A
Size:	1 bp
Located at:	HBS1L-MYB
Specific Location:	N/A

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	N/A
Ethnic Origin:	Northern European, Chinese
Molecular mechanism:	N/A
Inheritance:	Quantitative trait
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

Thein SL, Menzel S, Peng X, Best S, Jiang J, Close J, Silver N, Gerovasilli A, Ping C, Yamaguchi M, Wahlberg K, Ulug P, Spector TD, Garner C, Matsuda F, Farrall M, Lathrop M, Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults., Proc. Natl. Acad. Sci. U.S.A. , 104(27), 11346-51, 2007 PubMed
He Y, Lin W, Luo J, Influences of genetic variation on fetal hemoglobin., Pediatr Hematol Oncol , 28(8), 708-17, 2011 PubMed

Created on 2013-09-17 12:36:10, Last reviewed on 2018-11-20 19:10:18 (Show full history)

A/A	Date	Curator(s)	Comments
1	2013-09-17 12:36:10	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2016-05-18 11:35:57	The IthaGenes Curation Team	Reviewed.
4	2018-11-20 19:10:18	The IthaGenes Curation Team	Reviewed. Locus added.

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