LINC00592
Basic information
Region (hg38): 12:52164115-52223880
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (32 variants)
- not provided (3 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the LINC00592 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 | 32 | 35 | ||||
Total | 0 | 0 | 32 | 0 | 3 |
Variants in LINC00592
This is a list of pathogenic ClinVar variants found in the LINC00592 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
12-52171420-T-C | not specified | Uncertain significance (Dec 03, 2024) | ||
12-52171426-A-C | not specified | Uncertain significance (Aug 12, 2022) | ||
12-52171427-A-C | not specified | Uncertain significance (Sep 26, 2022) | ||
12-52171439-A-T | not specified | Uncertain significance (Oct 24, 2024) | ||
12-52171440-C-G | not specified | Uncertain significance (Aug 04, 2024) | ||
12-52171460-C-T | not specified | Uncertain significance (Jan 09, 2024) | ||
12-52171522-G-A | not specified | Uncertain significance (Mar 24, 2023) | ||
12-52171682-C-T | not specified | Uncertain significance (Apr 13, 2022) | ||
12-52171710-C-T | not specified | Uncertain significance (May 26, 2022) | ||
12-52172294-C-T | not specified | Uncertain significance (Jul 10, 2023) | ||
12-52172295-G-A | not specified | Uncertain significance (Sep 27, 2021) | ||
12-52172324-G-A | not specified | Uncertain significance (Oct 08, 2024) | ||
12-52172340-C-A | not specified | Uncertain significance (Aug 04, 2021) | ||
12-52173066-C-T | not specified | Uncertain significance (May 20, 2024) | ||
12-52173082-G-A | not specified | Uncertain significance (Mar 06, 2023) | ||
12-52173097-C-T | not specified | Uncertain significance (May 11, 2022) | ||
12-52173101-C-G | not specified | Uncertain significance (Dec 17, 2023) | ||
12-52173104-G-T | not specified | Uncertain significance (Jul 06, 2021) | ||
12-52173109-G-A | not specified | Uncertain significance (May 29, 2024) | ||
12-52173142-A-T | not specified | Uncertain significance (Jan 18, 2023) | ||
12-52173145-G-T | not specified | Uncertain significance (May 24, 2024) | ||
12-52173638-G-A | not specified | Uncertain significance (Mar 11, 2024) | ||
12-52173643-G-A | not specified | Uncertain significance (Mar 25, 2024) | ||
12-52173677-C-T | not specified | Uncertain significance (Oct 02, 2023) | ||
12-52173685-C-T | not specified | Uncertain significance (Aug 05, 2024) |
GnomAD
Source:
dbNSFP
Source: