IthaID: 3551

Names and Sequences

Functionality: Disease modifying mutation
Common Name: HGVS Name: NG_011982.1:g.[13259C>T;19253A>G]

Also known as:

Comments: The variant is a combination of an exon 3 SNP (rs759550223) and a splice site mutation near exon 7 (rs76277413). It was strongly associated with a decreased red blood cell allo-immunization risk among patients with sickle cell disease acquired from the Dutch STAR and the French SCDTRANSFU cohorts. This protective effect was strongest for exposure to antigens other than the immunogenic Rh or K antigens.

External Links


Chromosome: 1
Locus: NG_011982.1
Locus Location: 13259 or 19253
Size: 1 bp or 1 bp
Located at: FCGR2C
Specific Location: Exon 3


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Red blood cell alloimmunisation

Other details

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

Sequence Viewer

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Publications / Origin

  1. Meinderts SM, Sins JWR, Fijnvandraat K, Nagelkerke SQ, Geissler J, Tanck MW, Bruggeman C, Biemond BJ, Rijneveld AW, Kerkhoffs JH, Pakdaman S, Habibi A, van Bruggen R, Kuijpers TW, Pirenne F, van den Berg TK, Non-classical FCGR2C haplotype is associated with protection from red blood cell allo-immunization in sickle cell disease., Blood , 2017 PubMed
Created on 2019-12-20 14:14:31, Last reviewed on 2019-12-21 10:39:39 (Show full history)

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