ZC3H12C
Basic information
Region (hg38): 11:110093392-110171841
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 ZC3H12C 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 | 41 | 43 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 41 | 2 | 0 |
Variants in ZC3H12C
This is a list of pathogenic ClinVar variants found in the ZC3H12C region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
11-110093424-G-C | not specified | Uncertain significance (Aug 09, 2021) | ||
11-110136669-G-A | not specified | Uncertain significance (Mar 01, 2024) | ||
11-110136723-C-T | not specified | Uncertain significance (Nov 07, 2022) | ||
11-110136724-G-A | not specified | Likely benign (Aug 03, 2022) | ||
11-110136730-A-G | not specified | Likely benign (Mar 20, 2024) | ||
11-110136760-A-G | not specified | Uncertain significance (Sep 12, 2023) | ||
11-110136768-G-A | not specified | Likely benign (Jan 23, 2024) | ||
11-110136885-G-A | not specified | Uncertain significance (Dec 02, 2024) | ||
11-110136886-A-G | not specified | Uncertain significance (Sep 19, 2022) | ||
11-110136915-G-A | not specified | Uncertain significance (May 02, 2023) | ||
11-110136981-A-G | not specified | Uncertain significance (Dec 16, 2023) | ||
11-110136996-C-G | X-linked Alport syndrome | Uncertain significance (Jul 14, 2021) | ||
11-110137018-T-C | not specified | Uncertain significance (Jan 27, 2022) | ||
11-110137021-A-T | not specified | Uncertain significance (Nov 15, 2021) | ||
11-110137023-C-T | not specified | Uncertain significance (Jun 16, 2023) | ||
11-110137028-C-G | not specified | Uncertain significance (Jul 14, 2023) | ||
11-110137039-G-T | not specified | Uncertain significance (May 09, 2023) | ||
11-110137086-T-A | not specified | Uncertain significance (Jul 07, 2022) | ||
11-110137110-G-A | not specified | Uncertain significance (Sep 27, 2021) | ||
11-110137120-G-A | not specified | Uncertain significance (Apr 22, 2022) | ||
11-110137168-A-G | not specified | Uncertain significance (May 15, 2023) | ||
11-110137176-G-A | not specified | Uncertain significance (May 10, 2024) | ||
11-110137353-G-T | not specified | Uncertain significance (Jul 08, 2021) | ||
11-110137410-A-G | not specified | Uncertain significance (Oct 26, 2022) | ||
11-110152933-A-C | not specified | Uncertain significance (Dec 03, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ZC3H12C | protein_coding | protein_coding | ENST00000278590 | 6 | 78480 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.998 | 0.00162 | 124886 | 2 | 50 | 124938 | 0.000208 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.80 | 377 | 489 | 0.771 | 0.0000268 | 5810 |
Missense in Polyphen | 108 | 206.43 | 0.52317 | 2440 | ||
Synonymous | 1.69 | 158 | 187 | 0.843 | 0.0000111 | 1694 |
Loss of Function | 4.97 | 4 | 36.4 | 0.110 | 0.00000234 | 418 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000433 | 0.000432 |
Ashkenazi Jewish | 0.0000995 | 0.0000993 |
East Asian | 0.000179 | 0.000165 |
Finnish | 0.0000468 | 0.0000463 |
European (Non-Finnish) | 0.000124 | 0.000124 |
Middle Eastern | 0.000179 | 0.000165 |
South Asian | 0.000752 | 0.000686 |
Other | 0.000330 | 0.000329 |
dbNSFP
Source:
- Function
- FUNCTION: May function as RNase and regulate the levels of target RNA species. {ECO:0000305}.;
Recessive Scores
- pRec
- 0.107
Intolerance Scores
- loftool
- 0.402
- rvis_EVS
- -0.73
- rvis_percentile_EVS
- 14.14
Haploinsufficiency Scores
- pHI
- 0.185
- hipred
- Y
- hipred_score
- 0.699
- ghis
- 0.584
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- K
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.318
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Zc3h12c
- Phenotype
Gene ontology
- Biological process
- biological_process;nucleic acid phosphodiester bond hydrolysis
- Cellular component
- cellular_component
- Molecular function
- molecular_function;endonuclease activity;metal ion binding