RHD(S256X)

Structure

RHD(S256X)

Key changes from standard allele

767C>G (S256X)

ISBT allele designation

RHD*01N.39

Nucleotide changes relative to "standard RHD"

c.767 C>G

Amino acid changes relative to standard protein

Ser to Stop at codon 256

S256X

ISBT group

RHD negative

Phenotype characterization and grouping

D negative

Haplotype (typical)

CDe

Allele cluster

Eurasian D cluster

Descriptions

First submission to GenBank: 2012 HE814563 (submitted 2012-05-08, released 2012-05-14)

First full publication: 2013 Orzinska A et. al. Transfusion. 2013 Nov;53(11 Suppl 2):2945-53. doi: 10.1111

Serology

D negative HE814563
D negative Orzinska A et. al. Transfusion. 2013 Nov;53(11 Suppl 2):2945-53. doi: 10.1111

Observations

Pakistan: Saleheen D et. al. Nature. 2017 Apr 12;544(7649):235-239. doi: 10.1038/nature22034.
Poland (general): Frequency 1:10400 Orzinska A et. al. Transfusion. 2013 Nov;53(11 Suppl 2):2945-53. doi: 10.1111

Additional comments

Last update: 2018-02-17 (yyyy-MM-dd)