IthaID: 2810


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs4910543 HGVS Name: NG_000007.3:g.60019C>G

Context nucleotide sequence:
TGGAGGTCAGAGGTTAGAAATCAGA [C/G] TTGGGAATTGGGATTATACAGGCTG (Strand: +)

Also known as:

Comments: Associated with HbF levels and disease severity in patients from Thailand with HbE/β0-thalassemia.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]
Severity [HP:0012824]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 60019
Size: 1 bp
Located at: HBD-HBBP1
Specific Location: N/A

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Sherva R, Sripichai O, Abel K, Ma Q, Whitacre J, Angkachatchai V, Makarasara W, Winichagoon P, Svasti S, Fucharoen S, Braun A, Farrer LA, Genetic modifiers of Hb E/beta0 thalassemia identified by a two-stage genome-wide association study., BMC Med. Genet. , 11(0), 51, 2010
Created on 2016-05-17 09:44:35, Last reviewed on 2021-07-09 14:07:04 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.