PCOLCE-AS1
Basic information
Region (hg38): 7:100589402-100605782
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 PCOLCE-AS1 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 | 4 | 0 | 0 |
Variants in PCOLCE-AS1
This is a list of pathogenic ClinVar variants found in the PCOLCE-AS1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 7-100589666-G-C | not specified | Likely benign (Feb 13, 2023) | ||
| 7-100589666-G-T | not specified | Uncertain significance (Sep 29, 2023) | ||
| 7-100589671-G-C | not specified | Uncertain significance (Feb 23, 2023) | ||
| 7-100589675-A-G | not specified | Uncertain significance (Mar 27, 2023) | ||
| 7-100589702-G-A | not specified | Uncertain significance (Mar 08, 2025) | ||
| 7-100589710-G-T | not specified | Uncertain significance (Dec 13, 2022) | ||
| 7-100589758-T-C | not specified | Uncertain significance (Nov 10, 2024) | ||
| 7-100589773-G-A | not specified | Likely benign (Jun 16, 2024) | ||
| 7-100589777-G-A | not specified | Uncertain significance (Sep 14, 2023) | ||
| 7-100589791-C-T | not specified | Uncertain significance (Aug 02, 2022) | ||
| 7-100590005-C-T | not specified | Uncertain significance (May 26, 2024) | ||
| 7-100590010-C-T | not specified | Uncertain significance (Feb 04, 2025) | ||
| 7-100590060-G-T | not specified | Uncertain significance (Jun 06, 2023) | ||
| 7-100590064-C-A | not specified | Uncertain significance (Aug 01, 2024) | ||
| 7-100590068-C-A | not specified | Uncertain significance (May 26, 2023) | ||
| 7-100590235-G-A | not specified | Likely benign (Oct 26, 2022) | ||
| 7-100590244-A-G | not specified | Uncertain significance (Jan 24, 2025) | ||
| 7-100590263-A-C | not specified | Uncertain significance (Dec 28, 2023) | ||
| 7-100590279-A-C | not specified | Uncertain significance (Aug 04, 2024) | ||
| 7-100590328-G-A | not specified | Uncertain significance (Oct 03, 2022) | ||
| 7-100591703-G-A | not specified | Uncertain significance (Jun 07, 2024) | ||
| 7-100591705-C-T | not specified | Uncertain significance (Jul 16, 2024) | ||
| 7-100591726-G-A | not specified | Uncertain significance (Oct 21, 2024) | ||
| 7-100591753-C-T | not specified | Uncertain significance (Jul 20, 2022) | ||
| 7-100591780-G-A | not specified | Uncertain significance (Feb 27, 2025) |
GnomAD
Source:
dbNSFP
Source: