IthaID: 3746



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs7122044 HGVS Name: NC_000011.10:g.72751589A>G

Context nucleotide sequence:
AGTCAAATCCTTCCGAGTACCCCCAGGT [A>G] TCTGGCCCTGAAGCACCCCCCTCCCAC (Strand: +)

Also known as:

Comments: Allele 'A' associated with alloimmune responder status in an African American cohort of multiply transfused sickle cell disease patients.

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: Red blood cell alloimmunisation

Location

Chromosome: 11
Locus: NM_001040118.3
Locus Location: N/A
Size: 1 bp
Located at: ARAP1
Specific Location: Intron 1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Hanchard NA, Moulds JM, Belmont JW, Chen A, A Genome-Wide Screen for Large-Effect Alloimmunization Susceptibility Loci among Red Blood Cell Transfusion Recipients with Sickle Cell Disease., Transfus Med Hemother, 41(6), 453-61, 2014 PubMed
Created on 2021-02-17 18:00:58, Last reviewed on (Show full history)

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