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GeneBe

RHCE

Rh blood group CcEe antigens, the group of Blood group antigens|CD molecules

Basic information

Region (hg38): 1:25362248-25430192

Previous symbols: [ "RH" ]

Links

ENSG00000188672NCBI:6006OMIM:111700HGNC:10008Uniprot:P18577AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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)Hematologic1824267; 8220426; 9657769

ClinVar

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

  • Inborn genetic diseases (11 variants)
  • not provided (8 variants)
  • - (5 variants)

Variants pathogenicity by type

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

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
9
clinvar
4
clinvar
4
clinvar
17
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 9 4 4

Variants in RHCE

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

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
1-25370499-C-T Inborn genetic diseases Uncertain significance (May 04, 2023)2543857
1-25370511-C-T Inborn genetic diseases Uncertain significance (May 05, 2023)2544702
1-25375385-C-T - no classification for the single variant (-)242562
1-25375402-A-G Inborn genetic diseases Likely benign (Jan 18, 2023)2467551
1-25385733-T-C Inborn genetic diseases Likely benign (Feb 28, 2023)2490896
1-25385733-T-TATGAAGC RH-NULL, AMORPH TYPE Pathogenic (May 14, 2018)523642
1-25385759-G-A Benign (Aug 02, 2017)791109
1-25385816-TGA-G RH-NULL, AMORPH TYPE Pathogenic (May 15, 2018)17710
1-25385820-TC-T RH-NULL, AMORPH TYPE Pathogenic (May 15, 2018)523641
1-25388977-G-A Inborn genetic diseases Uncertain significance (Jan 04, 2022)2269569
1-25388983-C-T Inborn genetic diseases Uncertain significance (Jun 01, 2022)2286194
1-25388999-T-C Likely benign (Oct 24, 2017)789916
1-25389032-T-C altered RhC expression Affects (-)1185563
1-25389095-C-T Inborn genetic diseases Uncertain significance (Aug 04, 2023)2616134
1-25390838-T-C Benign (Oct 24, 2017)789917
1-25390874-C-C RH E/e POLYMORPHISM Benign (Sep 01, 1993)17708
1-25391993-C-A RH-NULL, AMORPH TYPE Pathogenic (May 15, 2018)523640
1-25392071-C-T Inborn genetic diseases Uncertain significance (Jul 09, 2021)2236130
1-25402642-A-T Inborn genetic diseases Uncertain significance (Nov 19, 2022)2328304
1-25402700-C-T Inborn genetic diseases Uncertain significance (Jun 29, 2023)2608518
1-25402721-T-A Likely benign (Sep 01, 2023)2638499
1-25408711-G-A not provided (-)156358
1-25408711-G-G - no classification for the single variant (-)242743
1-25408764-G-C Benign (Dec 14, 2017)775525
1-25408815-T-T - no classification for the single variant (-)242741

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RHCEprotein_codingprotein_codingENST00000294413 1067944
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.001160.9901257330151257480.0000596
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.4032112280.9250.00001312667
Missense in Polyphen3960.8260.64117835
Synonymous0.1499596.90.9810.00000631876
Loss of Function2.31818.80.4269.75e-7208

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001160.000116
Ashkenazi Jewish0.000.00
East Asian0.0001090.000109
Finnish0.00004620.0000462
European (Non-Finnish)0.00006190.0000615
Middle Eastern0.0001090.000109
South Asian0.000.00
Other0.0001630.000163

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.;

Recessive Scores

pRec
0.119

Intolerance Scores

loftool
0.624
rvis_EVS
1.69
rvis_percentile_EVS
96.38

Haploinsufficiency Scores

pHI
0.189
hipred
N
hipred_score
0.380
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.00564

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Gene ontology

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