SLC22A10
Basic information
Region (hg38): 11:63268022-63311783
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 SLC22A10 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 | 1 | |||||
missense | 28 | 29 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 28 | 2 | 0 |
Variants in SLC22A10
This is a list of pathogenic ClinVar variants found in the SLC22A10 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
11-63290194-T-C | not specified | Uncertain significance (Oct 12, 2022) | ||
11-63290239-T-G | not specified | Uncertain significance (May 13, 2024) | ||
11-63290310-T-A | not specified | Uncertain significance (Feb 13, 2024) | ||
11-63290388-A-G | not specified | Uncertain significance (Sep 06, 2022) | ||
11-63290403-G-C | not specified | Uncertain significance (Aug 02, 2022) | ||
11-63290430-C-T | not specified | Uncertain significance (May 14, 2024) | ||
11-63290442-C-A | not specified | Uncertain significance (Jan 09, 2024) | ||
11-63290505-G-A | not specified | Uncertain significance (Dec 22, 2023) | ||
11-63290506-A-G | not specified | Uncertain significance (Mar 04, 2024) | ||
11-63290513-T-G | not specified | Uncertain significance (Feb 26, 2024) | ||
11-63291625-G-A | not specified | Uncertain significance (Feb 28, 2023) | ||
11-63291642-A-T | not specified | Uncertain significance (Feb 27, 2023) | ||
11-63297311-G-A | not specified | Uncertain significance (May 18, 2023) | ||
11-63297364-G-A | not specified | Uncertain significance (Aug 17, 2022) | ||
11-63297391-T-G | not specified | Uncertain significance (Mar 06, 2023) | ||
11-63297407-T-C | not specified | Uncertain significance (May 11, 2022) | ||
11-63297411-G-C | not specified | Uncertain significance (Jan 23, 2024) | ||
11-63297433-A-T | not specified | Uncertain significance (Jun 07, 2023) | ||
11-63297437-T-C | not specified | Uncertain significance (Apr 24, 2024) | ||
11-63297452-T-C | not specified | Uncertain significance (Sep 01, 2021) | ||
11-63297660-T-C | not specified | Uncertain significance (Oct 17, 2023) | ||
11-63297664-G-A | not specified | Uncertain significance (Feb 05, 2024) | ||
11-63297691-C-T | not specified | Likely benign (Dec 08, 2021) | ||
11-63297692-G-A | Likely benign (Mar 01, 2023) | |||
11-63298999-C-A | not specified | Uncertain significance (Sep 21, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
SLC22A10 | protein_coding | protein_coding | ENST00000332793 | 10 | 231852 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
1.89e-19 | 0.000890 | 30557 | 34513 | 60668 | 125738 | 0.507 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.835 | 339 | 298 | 1.14 | 0.0000154 | 3493 |
Missense in Polyphen | 71 | 67.807 | 1.0471 | 862 | ||
Synonymous | -2.07 | 133 | 106 | 1.26 | 0.00000521 | 1124 |
Loss of Function | -0.546 | 27 | 24.1 | 1.12 | 0.00000132 | 268 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.803 | 0.804 |
Ashkenazi Jewish | 0.448 | 0.447 |
East Asian | 0.422 | 0.420 |
Finnish | 0.606 | 0.603 |
European (Non-Finnish) | 0.576 | 0.569 |
Middle Eastern | 0.422 | 0.420 |
South Asian | 0.452 | 0.445 |
Other | 0.531 | 0.526 |
dbNSFP
Source:
Intolerance Scores
- loftool
- 0.700
- rvis_EVS
- 1.85
- rvis_percentile_EVS
- 97.12
Haploinsufficiency Scores
- pHI
- 0.0259
- hipred
- N
- hipred_score
- 0.112
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.0699
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | High | High | High |
Primary Immunodeficiency | High | High | High |
Cancer | High | High | High |
Gene ontology
- Biological process
- transmembrane transport
- Cellular component
- integral component of membrane
- Molecular function
- transmembrane transporter activity