SLC12A8
Basic information
Region (hg38): 3:125082636-125212864
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 SLC12A8 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 | 55 | 59 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 55 | 4 | 0 |
Variants in SLC12A8
This is a list of pathogenic ClinVar variants found in the SLC12A8 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
3-125083915-C-T | not specified | Uncertain significance (Dec 17, 2023) | ||
3-125083942-C-G | not specified | Uncertain significance (May 10, 2023) | ||
3-125083942-C-T | not specified | Uncertain significance (Mar 25, 2024) | ||
3-125083955-C-T | not specified | Uncertain significance (Aug 31, 2022) | ||
3-125083987-A-T | not specified | Uncertain significance (Mar 31, 2022) | ||
3-125083991-C-G | not specified | Uncertain significance (Apr 19, 2023) | ||
3-125084017-G-A | not specified | Uncertain significance (Jul 26, 2021) | ||
3-125084029-T-A | not specified | Uncertain significance (Jun 03, 2022) | ||
3-125088343-C-T | not specified | Uncertain significance (Oct 20, 2021) | ||
3-125091451-C-G | not specified | Uncertain significance (Aug 02, 2021) | ||
3-125091460-C-T | not specified | Likely benign (Jan 20, 2023) | ||
3-125091463-G-A | not specified | Uncertain significance (Oct 06, 2021) | ||
3-125091510-G-T | not specified | Uncertain significance (Oct 26, 2021) | ||
3-125092115-C-T | not specified | Uncertain significance (Sep 16, 2021) | ||
3-125092141-A-G | not specified | Uncertain significance (Mar 17, 2023) | ||
3-125092147-G-A | not specified | Uncertain significance (Dec 01, 2022) | ||
3-125092170-T-A | not specified | Uncertain significance (Apr 04, 2023) | ||
3-125107489-C-T | not specified | Uncertain significance (Jun 18, 2021) | ||
3-125107498-G-A | not specified | Uncertain significance (Jul 14, 2023) | ||
3-125107559-C-T | not specified | Uncertain significance (Jun 13, 2023) | ||
3-125107580-T-C | not specified | Uncertain significance (Feb 22, 2023) | ||
3-125107623-G-C | not specified | Uncertain significance (Aug 04, 2023) | ||
3-125107654-G-T | not specified | Uncertain significance (May 26, 2022) | ||
3-125107664-C-T | not specified | Uncertain significance (May 24, 2023) | ||
3-125107840-C-T | not specified | Uncertain significance (Nov 08, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
SLC12A8 | protein_coding | protein_coding | ENST00000393469 | 13 | 196542 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
5.31e-19 | 0.0117 | 124566 | 2 | 286 | 124854 | 0.00115 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.306 | 429 | 412 | 1.04 | 0.0000231 | 4605 |
Missense in Polyphen | 175 | 175.53 | 0.99696 | 1973 | ||
Synonymous | -0.242 | 187 | 183 | 1.02 | 0.0000116 | 1500 |
Loss of Function | 0.518 | 30 | 33.2 | 0.903 | 0.00000158 | 362 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00720 | 0.00705 |
Ashkenazi Jewish | 0.00300 | 0.00298 |
East Asian | 0.000445 | 0.000445 |
Finnish | 0.000282 | 0.000278 |
European (Non-Finnish) | 0.000807 | 0.000803 |
Middle Eastern | 0.000445 | 0.000445 |
South Asian | 0.000492 | 0.000490 |
Other | 0.00100 | 0.000989 |
dbNSFP
Source:
- Function
- FUNCTION: Cation/chloride cotransporter that may play a role in the control of keratinocyte proliferation. {ECO:0000269|PubMed:11863360}.;
Intolerance Scores
- loftool
- 0.185
- rvis_EVS
- 0.67
- rvis_percentile_EVS
- 84.75
Haploinsufficiency Scores
- pHI
- hipred
- N
- hipred_score
- 0.216
- ghis
- 0.466
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.119
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Slc12a8
- Phenotype
- normal phenotype;
Zebrafish Information Network
- Gene name
- slc12a8
- Affected structure
- otolith
- Phenotype tag
- abnormal
- Phenotype quality
- malformed
Gene ontology
- Biological process
- cell volume homeostasis;chloride ion homeostasis;potassium ion homeostasis;chloride transmembrane transport;potassium ion import across plasma membrane
- Cellular component
- cell;integral component of membrane
- Molecular function
- potassium:chloride symporter activity