RHD(IVS1-29G>C)

Structure

RHD(IVS1-29G>C)

Key changes from standard allele

IVS1-29G>C

ISBT allele designation

RHD*01EL.32
RHD*DEL32

Nucleotide changes relative to "standard RHD"

c.149-29 G>C

Amino acid changes relative to standard protein

ISBT group

DEL

Phenotype characterization and grouping

DEL

Haplotype (typical)

CDe

Allele cluster

Eurasian D cluster

Descriptions

First submission to GenBank: 2012 HE971139 (submitted 2012-07-25, released 2012-07-30)

Serology

DEL phenotype HE971139

Observations

Poland (general): CcDee sample HE971139

Related Alleles

RHD(S112T) [RHD(S112T)]

Additional comments

The relation of the IVS1-29G>C mutation to the phenotype is unsure, because IVS1-29G>C is a frequent polymorphism . In the ISBT listing, the mutation is given as c.336-29G>C. Since theoriginal entry of HE971139 commented the mutation as IVS2-29G>C and I was unable to locate any RHD(IVS2-29G>C) allele (which may exist), I assume that the ISBT number relates to this allele.

Last update: 2017-02-12 (yyyy-MM-dd)