RHDex10del type 1

Structure

RHD(1227+2874_1254+1317del)

Key changes from standard allele

delEx10

ISBT allele designation

No designation assigned

Nucleotide changes relative to "standard RHD"

c.1227+2874 del5405

nucleotide changes according to GRCh38.p12
25324837 del5405

Amino acid changes relative to standard protein

ISBT group

Phenotype characterization and grouping

weakened D expression; DEL

Haplotype (typical)

not reported

Allele cluster

Eurasian D cluster

Descriptions

First submission to GenBank: 2012 JN696682 (submitted 2011-09-16, released 2012-02-29)

First full publication: 2012 Fichou Y et. al. Transfusion. 2012 Mar 15.

Other relevant descriptions:
Srivastava K et. al. J Hum Genet. 2017 Nov 16. pii: 10.1038/s10038-017-0345-3. doi:

Serology

weak D phenotype; no anti-D among 61 probands Fichou Y et. al. Transfusion. 2012 Mar 15.
DEL Srivastava K et. al. J Hum Genet. 2017 Nov 16. pii: 10.1038/s10038-017-0345-3. doi:

Observations

France (general): 61 probands, possible founder mutation Fichou Y et. al. Transfusion. 2012 Mar 15.

Additional comments

This allele may explain the PCR pattern previously reported as RHD-RHCE(10)
The numbering of the mutation is according to Srivastava K et al. .

Last update: 2018-01-02 (yyyy-MM-dd)