IthaID: 2800


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs916111 HGVS Name: NG_000007.3:g.49503A>T

Context nucleotide sequence:
ATTTTTATATGAGATGTGCATTTTG [A/T] TGAGCAAATAAAAGCAGTAAAGACA (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: 49503
Size: 1 bp
Located at:
Specific Location: 3'UTR

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 2016-05-16 18:25:39, Last reviewed on 2021-07-08 16:07:17 (Show full history)

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