RHD

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

Basic information

Region (hg38): 1:25272393-25330445

Previous symbols: [ "RH" ]

Links

ENSG00000187010 ∙ NCBI:6007 ∙ OMIM:111680 ∙ HGNC:10009 ∙ Uniprot:Q02161 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

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

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Rhesus blood group	BG	Hematologic	Variants associated with a blood group may be important in specific situations (eg, related to transfusion)	Hematologic	8808597; 9845715; 986418; 10504121; 21277262

ClinVar

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

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.

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				3	2	5
missense			11	6	1	18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	11	9	4

Variants in RHD

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

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

Position	Type	Phenotype	Significance	ClinVar
1-25284610-G-T		-	no classification for the single variant (-)
1-25284657-C-T		not specified	Uncertain significance (Jul 05, 2024)
1-25284678-C-T			Likely benign (Nov 01, 2022)
1-25284694-G-C		Weakened expression of D antigen	Affects (Jan 14, 2019)
1-25284701-CT-GG		weakened D expression by serology	Affects (Jul 01, 2021)
1-25284746-A-G		not specified	Uncertain significance (Aug 04, 2024)
1-25284753-T-C		RhD category D-VII	Pathogenic (May 01, 1995)
1-25290646-G-C		weakened D expression by serology	Affects (-)
1-25290671-G-A			Likely benign (Apr 09, 2018)
1-25290715-C-T		-	no classification for the single variant (-)
1-25290757-G-A		Blood group antigen abnormality	Affects (Mar 03, 2016)
1-25290760-A-C		-	no classification for the single variant (-)
1-25290761-C-G		not specified	Uncertain significance (Aug 26, 2024)
1-25290800-T-C			Benign (Aug 16, 2018)
1-25300968-T-C		-	no classification for the single variant (-)
1-25301000-C-G		not specified	Uncertain significance (May 01, 2022)
1-25301028-C-T		not specified	Uncertain significance (Aug 12, 2024)
1-25301038-G-A			Benign (Nov 01, 2023)
1-25301049-A-C		not specified	Uncertain significance (Jan 17, 2024)
1-25301061-C-G		-	no classification for the single variant (-)
1-25301063-G-A		-	no classification for the single variant (-)
1-25301067-C-T		not specified	Uncertain significance (Jan 02, 2024)
1-25301068-G-A			Benign (Jul 16, 2018)
1-25301070-T-A		serologic weak D phenotype	Affects (Sep 04, 2020)
1-25301552-T-G		-	no classification for the single variant (-)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RHD	protein_coding	protein_coding	ENST00000328664	10	58053

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000285	0.937	112308	140	514	112962	0.00290

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.326	226	213	1.06	0.0000125	2666
Missense in Polyphen		71	69.28	1.0248		994
Synonymous	-0.489	97	91.1	1.07	0.00000620	857
Loss of Function	1.72	10	17.8	0.561	9.56e-7	208

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0459	0.0379
Ashkenazi Jewish	0.000871	0.000762
East Asian	0.000381	0.000327
Finnish	0.000105	0.0000522
European (Non-Finnish)	0.000158	0.000125
Middle Eastern	0.000381	0.000327
South Asian	0.000419	0.000314
Other	0.00112	0.000913

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

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

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

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