IthaID: 2117

Names and Sequences

Functionality:	Disease modifying mutation	Pathogenicity:	N/A
Common Name:	rs6037828	HGVS Name:	NG_011970.1:g.40474G>A

Context nucleotide sequence:
CCTGAGGTATACACATACAGAGTCA [C/T] GGAGGTTTTCTGACAAAAACTACTC (Strand: +)

Also known as:

Comments: SNP strongly associated with increased HbF levels in the general (non-anaemic) population of Sardinia (n=4305) [PMID: 18245381]. The association was not replicated in a β-thalassemia Chinese cohort (n=312) [PMID: 22023465].

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:	20
Locus:	NG_011970.1
Locus Location:	40474
Size:	1 bp
Located at:	CSNK2A1
Specific Location:	Intron 3

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Uda M, Galanello R, Sanna S, Lettre G, Sankaran VG, Chen W, Usala G, Busonero F, Maschio A, Albai G, Piras MG, Sestu N, Lai S, Dei M, Mulas A, Crisponi L, Naitza S, Asunis I, Deiana M, Nagaraja R, Perseu L, Satta S, Cipollina MD, Sollaino C, Moi P, Hirschhorn JN, Orkin SH, Abecasis GR, Schlessinger D, Cao A, Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia., Proc. Natl. Acad. Sci. U.S.A. , 105(5), 1620-5, 2008 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 2013-09-18 17:12:18, Last reviewed on 2016-05-16 16:48:23 (Show full history)

A/A	Date	Curator(s)	Comments
1	2013-09-18 17:12:18	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2014-04-09 11:49:29	The IthaGenes Curation Team	Reviewed.
4	2016-05-16 16:46:26	The IthaGenes Curation Team	Reviewed.
5	2016-05-16 16:48:23	The IthaGenes Curation Team	Reviewed.

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