RHD(1269G>C)

Structure

RHD(1269G>C)

Key changes from standard allele

1269G>C

ISBT allele designation

No designation assigned

Nucleotide changes relative to "standard RHD"

1269 G>C

Amino acid changes relative to standard protein

not applicable

Haplotype (typical)

CDe

Allele cluster

Eurasian D cluster

Descriptions

First submission to GenBank: 2011 JF816281 (submitted 2011-04-18, released 2011-10-09)

First full publication: 2012 Fichou Y et. al. Transfusion. 2012 Apr;52(4):759-64. (submitted 2011-04-19, released 2011-09-29)

Other relevant descriptions:
HF674881 (submitted 2013-01-29, released 2013-02-20)

ISBT group

Phenotype characterization and grouping

weakened D expression

Serology

Discrepant results with different anti-D Fichou Y et. al. Transfusion. 2012 Apr;52(4):759-64.
HF674881

Observations

Austria (general): HF674881
France (general): Fichou Y et. al. Transfusion. 2012 Apr;52(4):759-64.

Additional comments

The mutation is located in the 3' UTR region. This is the second report of an allele characterized by a polymorphism in the 3' untranslated region (the first was RHD(1347A>G)) and the first one shown to be associated with an phenotype alteration.

Last update: 2013-03-02 (yyyy-MM-dd)