IthaID: 3542


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs7948471 HGVS Name: NC_000011.10:g.5450516G>A

Context nucleotide sequence:
CCAGGGTCAGGACTCCTGACACCCTC [G>A] GGGTCCTTTCTTCTAAACCACCTGGTT (Strand: +)

Also known as:

Comments: SNP associated with haemolysis in sickle cell anaemia (SCA) in samples taken from the CSSCD (n=1117), Walk-PHaSST (n=449) and PUSH (n=296) studies, as well as in a cohort of SCA patients from London, UK (n=213).

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: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 11
Locus: N/A
Locus Location: N/A
Size: 1 bp
Located at: OR51B5
Specific Location: N/A 0

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. Milton JN, Rooks H, Drasar E, McCabe EL, Baldwin CT, Melista E, Gordeuk VR, Nouraie M, Kato GR, Kato GJ, Minniti C, Taylor J, Campbell A, Luchtman-Jones L, Rana S, Castro O, Zhang Y, Thein SL, Sebastiani P, Gladwin MT, , Steinberg MH, Genetic determinants of haemolysis in sickle cell anaemia., Br. J. Haematol. , 161(2), 270-8, 2013
Created on 2019-12-13 10:08:32, Last reviewed on (Show full history)

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