IthaID: 3911



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs796512567 HGVS Name: NC_000006.12:g.135097900_135097901delinsA

Context nucleotide sequence:
GGTTATTTACAGTTTTTTCACAAGCAA [CC>A] CTGCTGTATTTCTGTGCACAGATATA (Strand: +)

Also known as:

Comments: Associated with increased HbF levels as well as clinical outcomes (risk of acute syndrome and infections) in pediatric patients with SCA from southeastern Brazil (n=250).

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]
Acute chest syndrome

Location

Chromosome: 6
Locus: NT_025741.15
Locus Location: N/A
Size: 2 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: Brazilian
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Sales RR, Belisário AR, Faria G, Mendes F, Luizon MR, Viana MB, Functional polymorphisms of BCL11A and HBS1L-MYB genes affect both fetal hemoglobin level and clinical outcomes in a cohort of children with sickle cell anemia., Ann Hematol, 99(7), 1453-1463, 2020 PubMed
Created on 2022-03-30 15:54:19, Last reviewed on 2022-03-31 11:13:31 (Show full history)

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