KCNV1
Basic information
Region (hg38): 8:109963636-109975771
Links
Phenotypes
GenCC
Source:
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 KCNV1 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 | 6 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 6 | 0 | 0 |
Variants in KCNV1
This is a list of pathogenic ClinVar variants found in the KCNV1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 8-109968141-C-T | not specified | Uncertain significance (Mar 22, 2023) | ||
| 8-109968569-T-A | not specified | Uncertain significance (Sep 13, 2023) | ||
| 8-109972287-C-T | not specified | Uncertain significance (Jun 13, 2024) | ||
| 8-109972531-G-T | not specified | Uncertain significance (Apr 27, 2023) | ||
| 8-109972737-G-A | not specified | Uncertain significance (Nov 21, 2022) | ||
| 8-109972765-T-C | not specified | Uncertain significance (Aug 14, 2023) | ||
| 8-109974359-G-C | not specified | Uncertain significance (May 16, 2024) | ||
| 8-109974376-C-T | not specified | Uncertain significance (Feb 12, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| KCNV1 | protein_coding | protein_coding | ENST00000524391 | 3 | 12203 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.978 | 0.0220 | 125158 | 0 | 2 | 125160 | 0.00000799 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 4.07 | 95 | 290 | 0.328 | 0.0000154 | 3235 |
| Missense in Polyphen | 16 | 112.46 | 0.14227 | 1245 | ||
| Synonymous | -0.664 | 129 | 120 | 1.08 | 0.00000629 | 1036 |
| Loss of Function | 3.49 | 1 | 16.1 | 0.0621 | 7.70e-7 | 189 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000178 | 0.0000177 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Potassium channel subunit that does not form functional channels by itself. Modulates KCNB1 and KCNB2 channel activity by shifting the threshold for inactivation to more negative values and by slowing the rate of inactivation. Can down-regulate the channel activity of KCNB1, KCNB2, KCNC4 and KCND1, possibly by trapping them in intracellular membranes. {ECO:0000269|PubMed:8670833, ECO:0000269|PubMed:9079713}.;
- Pathway
- Neuronal System;Voltage gated Potassium channels;Potassium Channels
(Consensus)
Recessive Scores
- pRec
- 0.113
Intolerance Scores
- loftool
- 0.0866
- rvis_EVS
- -0.38
- rvis_percentile_EVS
- 27.42
Haploinsufficiency Scores
- pHI
- 0.516
- hipred
- Y
- hipred_score
- 0.837
- ghis
- 0.657
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.346
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Kcnv1
- Phenotype
- behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); muscle phenotype;
Gene ontology
- Biological process
- potassium ion transport;regulation of ion transmembrane transport;protein homooligomerization;potassium ion transmembrane transport
- Cellular component
- plasma membrane;integral component of plasma membrane;voltage-gated potassium channel complex;integral component of membrane
- Molecular function
- voltage-gated potassium channel activity;ion channel inhibitor activity;potassium channel regulator activity