IthaID: 3415


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs6569992 HGVS Name: NC_000006.12:g.135131014G>A

Context nucleotide sequence:
TTCCCAGCATGATACTCTCCCACAGCCATC [G>A] TGTGGGCATAAAATAATATTCAGAATTGAA (Strand: +)

Also known as:

Comments: SNP associated with HbF levels (positive effect) in Chinese β-thalassaemia heterozygotes.

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]

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: Chinese
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Farrell JJ, Sherva RM, Chen ZY, Luo HY, Chu BF, Ha SY, Li CK, Lee AC, Li RC, Li CK, Yuen HL, So JC, Ma ES, Chan LC, Chan V, Sebastiani P, Farrer LA, Baldwin CT, Steinberg MH, Chui DH, A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression., Blood , 117(18), 4935-45, 2011
Created on 2019-05-23 16:56:14, Last reviewed on 2019-05-24 09:45:15 (Show full history)

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