IthaID: 3707


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs56737264 HGVS Name: NC_000002.12:g.15094029A>G

Context nucleotide sequence:
GAGACTCAGAAAGTGAGTTGTATTC [A>G] TTGTTAATAATAGTTTCAGAAAGA (Strand: +)

Also known as:

Comments: Genic Downstream Transcript Variant (NM_015909.4:c.). Associated with red blood cell alloimmunization in transfused patients with sickle cell disease. In strong LD with imputed SNP rs66516066.

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: 2
Locus: NG_032964.1
Locus Location: N/A
Size: 1 bp
Located at: NBAS
Specific Location: N/A

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

Publications / Origin

  1. Williams LM, Qi Z, Batai K, Hooker S, Hall NJ, Machado RF, Chen A, Campbell-Lee S, Guan Y, Kittles R, Hanchard NA, A locus on chromosome 5 shows African ancestry-limited association with alloimmunization in sickle cell disease., Blood Adv, 2(24), 3637-3647, 2018
Created on 2020-12-09 13:20:15, Last reviewed on (Show full history)

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