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GeneBe

RHD

Rh blood group D antigen, the group of CD molecules|Blood group antigens

Basic information

Region (hg38): 1:25272392-25330445

Previous symbols: [ "RH" ]

Links

ENSG00000187010NCBI:6007OMIM:111680HGNC:10009Uniprot:Q02161AlphaFoldGenCCjaxSfariGnomADPubmed

Phenotypes

GenCC

Source: genCC

  • Rh deficiency syndrome (Supportive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Rhesus blood groupBGHematologicVariants associated with a blood group may be important in specific situations (eg, related to transfusion)Hematologic8808597; 9845715; 986418; 10504121; 21277262

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RHD gene.

  • - (11 variants)
  • not provided (4 variants)
  • Inborn genetic diseases (4 variants)
  • weakened D expression by serology (3 variants)
  • RhD negative (1 variants)
  • RhD category D-VII (1 variants)
  • Rhd, weak d, type I (1 variants)
  • Hemolytic disease of fetus OR newborn due to RhD isoimmunization (1 variants)
  • Weakened expression of D antigen (1 variants)
  • Anti-D isoimmunization affecting pregnancy (1 variants)
  • Blood group antigen abnormality (1 variants)
  • serologic weak D phenotype (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RHD gene is commonly pathogenic or not.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous 1 2 3
missense 2 3 1 6
nonsense 0
start loss 0
frameshift 0
inframe indel 0
splice variant 0
non coding 1 1
Total 2 0 3 2 3

Highest pathogenic variant AF is 0.00251

Variants in RHD

This is a list of pathogenic ClinVar variants found in the RHD region.

Position Type Phenotype Significance ClinVar
1-25284610-G-T - no interpretation for the single variant (-)link
1-25284678-C-T Likely benign (Nov 01, 2022)link
1-25284694-G-C Weakened expression of D antigen Affects (Jan 14, 2019)link
1-25284701-CT-GG weakened D expression by serology Affects (Jul 01, 2021)link
1-25284753-T-C RhD category D-VII Pathogenic (May 01, 1995)link
1-25290646-G-C weakened D expression by serology Affects (-)link
1-25290671-G-A Likely benign (Apr 09, 2018)link
1-25290715-C-T - no interpretation for the single variant (-)link
1-25290757-G-A Blood group antigen abnormality Affects (Mar 03, 2016)link
1-25290760-A-C - no interpretation for the single variant (-)link
1-25290800-T-C Benign (Aug 16, 2018)link
1-25300968-T-C - no interpretation for the single variant (-)link
1-25301000-C-G Inborn genetic diseases Uncertain significance (May 01, 2022)link
1-25301061-C-G - no interpretation for the single variant (-)link
1-25301063-G-A - no interpretation for the single variant (-)link
1-25301068-G-A Benign (Jul 16, 2018)link
1-25301070-T-A serologic weak D phenotype Affects (Sep 04, 2020)link
1-25301552-T-G - no interpretation for the single variant (-)link
1-25301556-A-C Inborn genetic diseases Uncertain significance (Oct 26, 2022)link
1-25301582-G-C - no interpretation for the single variant (-)link
1-25301594-G-A weakened D expression by serology Affects (Jul 01, 2021)link
1-25301618-G-C - no interpretation for the single variant (-)link
1-25301629-C-T Benign/Likely benign (Jul 01, 2023)link
1-25301670-A-G Inborn genetic diseases Likely benign (Jul 13, 2022)link
1-25301680-C-G Inborn genetic diseases Uncertain significance (Dec 28, 2022)link

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RHDprotein_codingprotein_codingENST00000328664 1058053
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.00002850.9371123081405141129620.00290
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.3262262131.060.00001252666
Missense in Polyphen7169.281.0248994
Synonymous-0.4899791.11.070.00000620857
Loss of Function1.721017.80.5619.56e-7208

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.04590.0379
Ashkenazi Jewish0.0008710.000762
East Asian0.0003810.000327
Finnish0.0001050.0000522
European (Non-Finnish)0.0001580.000125
Middle Eastern0.0003810.000327
South Asian0.0004190.000314
Other0.001120.000913

dbNSFP

Source: dbNSFP

Function
FUNCTION: May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.;

Intolerance Scores

loftool
0.938
rvis_EVS
3.31
rvis_percentile_EVS
99.42

Haploinsufficiency Scores

pHI
0.404
hipred
N
hipred_score
0.132
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.00250

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rhd
Phenotype
hematopoietic system phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process
ammonium transmembrane transport
Cellular component
integral component of plasma membrane
Molecular function
ammonium transmembrane transporter activity