SLC26A10P
Basic information
Region (hg38): 12:57619527-57626036
Previous symbols: [ "SLC26A10" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (3 variants)
- not specified (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC26A10P 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 | 0 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 4 | |||||
Total | 0 | 0 | 1 | 3 | 0 |
Variants in SLC26A10P
This is a list of pathogenic ClinVar variants found in the SLC26A10P region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
12-57621734-C-T | Likely benign (Apr 10, 2018) | |||
12-57624077-G-A | not specified | Conflicting classifications of pathogenicity (Nov 01, 2022) | ||
12-57624885-T-G | Likely benign (Nov 01, 2022) | |||
12-57625419-C-T | not specified | Conflicting classifications of pathogenicity (Aug 01, 2024) | ||
12-57625736-C-T | Likely benign (Aug 01, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
SLC26A10P | protein_coding | protein_coding | ENST00000320442 | 14 | 6625 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
2.10e-15 | 0.0156 | 122400 | 38 | 3310 | 125748 | 0.0134 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.208 | 291 | 301 | 0.966 | 0.0000154 | 3511 |
Missense in Polyphen | 137 | 144.69 | 0.94688 | 1752 | ||
Synonymous | 0.454 | 129 | 136 | 0.950 | 0.00000700 | 1249 |
Loss of Function | 0.138 | 23 | 23.7 | 0.969 | 0.00000115 | 267 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0770 | 0.0771 |
Ashkenazi Jewish | 0.00478 | 0.00467 |
East Asian | 0.00223 | 0.00223 |
Finnish | 0.00583 | 0.00551 |
European (Non-Finnish) | 0.0116 | 0.0115 |
Middle Eastern | 0.00223 | 0.00223 |
South Asian | 0.0105 | 0.0103 |
Other | 0.0134 | 0.0133 |
dbNSFP
Source:
- Function
- FUNCTION: Chloride/bicarbonate exchanger. {ECO:0000250}.;
Recessive Scores
- pRec
- 0.100
Intolerance Scores
- loftool
- 0.201
- rvis_EVS
- 2.22
- rvis_percentile_EVS
- 98.16
Haploinsufficiency Scores
- pHI
- 0.281
- hipred
- N
- hipred_score
- 0.238
- ghis
- 0.388
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.351
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | High |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Slc26a10
- Phenotype
Gene ontology
- Biological process
- bicarbonate transport;oxalate transport;sulfate transmembrane transport;chloride transmembrane transport
- Cellular component
- integral component of plasma membrane;basolateral plasma membrane
- Molecular function
- secondary active sulfate transmembrane transporter activity;bicarbonate transmembrane transporter activity;chloride transmembrane transporter activity;sulfate transmembrane transporter activity;anion:anion antiporter activity;oxalate transmembrane transporter activity