RHD
Basic information
Region (hg38): 1:25272392-25330445
Previous symbols: [ "RH" ]
Links
Phenotypes
GenCC
Source:
- Rh deficiency syndrome (Supportive), mode of inheritance: AR
Clinical Genomic Database
Source:
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
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 | 5 | |||||
missense | 10 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region ? | 0 | |||||
non coding ? | 1 | |||||
Total | 0 | 0 | 5 | 7 | 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 (-) | ||
1-25284678-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) | ||
1-25284753-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 (-) | ||
1-25290800-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) | ||
1-25301038-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 (-) | ||
1-25301556-A-C | not specified | Uncertain significance (Oct 26, 2022) | ||
1-25301582-G-C | - | no classification for the single variant (-) | ||
1-25301594-G-A | weakened D expression by serology | Affects (Jul 01, 2021) | ||
1-25301618-G-C | - | no classification for the single variant (-) |
GnomAD
Source:
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:
- 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
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