SLC26A10P

solute carrier family 26 member 10, pseudogene, the group of Solute carrier family 26

Basic information

Region (hg38): 12:57619527-57626036

Previous symbols: [ "SLC26A10" ]

Links

ENSG00000135502NCBI:65012HGNC:14470Uniprot:Q8NG04AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SLC26A10P gene.

  • 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
1
clinvar
3
clinvar
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)739825
12-57624077-G-A not specified Conflicting classifications of pathogenicity (Nov 01, 2022)1686495
12-57624885-T-G Likely benign (Nov 01, 2022)2643143
12-57625419-C-T not specified Conflicting classifications of pathogenicity (Aug 01, 2024)1686497
12-57625736-C-T Likely benign (Aug 01, 2024)3341588

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SLC26A10Pprotein_codingprotein_codingENST00000320442 146625
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
2.10e-150.01561224003833101257480.0134
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.2082913010.9660.00001543511
Missense in Polyphen137144.690.946881752
Synonymous0.4541291360.9500.000007001249
Loss of Function0.1382323.70.9690.00000115267

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.07700.0771
Ashkenazi Jewish0.004780.00467
East Asian0.002230.00223
Finnish0.005830.00551
European (Non-Finnish)0.01160.0115
Middle Eastern0.002230.00223
South Asian0.01050.0103
Other0.01340.0133

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerMediumMediumMedium

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