LINC01311
Basic information
Region (hg38): 22:19171395-19185045
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 LINC01311 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 | 0 | |||||
Total | 0 | 0 | 0 | 0 | 0 |
Variants in LINC01311
This is a list of pathogenic ClinVar variants found in the LINC01311 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
22-19175882-A-AGGCACAGGGTTCACAGTAAGCACATGGACAAGTG | Benign (Feb 28, 2022) | |||
22-19176063-T-TCA | Likely benign (Jun 01, 2021) | |||
22-19176064-C-CAT | Benign (Jun 29, 2018) | |||
22-19176133-G-C | Uncertain significance (Feb 10, 2022) | |||
22-19176136-C-T | Likely benign (Oct 17, 2022) | |||
22-19176137-G-A | Uncertain significance (Aug 31, 2022) | |||
22-19176138-T-C | 2-hydroxyglutaric aciduria | Uncertain significance (Feb 17, 2020) | ||
22-19176139-C-T | Benign (Sep 09, 2023) | |||
22-19176154-G-GAGC | Uncertain significance (Sep 16, 2018) | |||
22-19176172-A-G | SLC25A1-related disorder • not specified | Benign/Likely benign (Jul 01, 2024) | ||
22-19176177-A-G | 2-hydroxyglutaric aciduria | Uncertain significance (Sep 19, 2018) | ||
22-19176205-G-A | Likely benign (Dec 12, 2023) | |||
22-19176221-C-T | D,L-2-hydroxyglutaric aciduria | Likely pathogenic (Dec 02, 2023) | ||
22-19176222-G-A | 2-hydroxyglutaric aciduria • D,L-2-hydroxyglutaric aciduria | Pathogenic/Likely pathogenic (Mar 21, 2023) | ||
22-19176222-G-C | D,L-2-hydroxyglutaric aciduria | Likely pathogenic (Aug 18, 2022) | ||
22-19176225-G-A | Uncertain significance (Aug 22, 2022) | |||
22-19176228-C-T | Uncertain significance (Apr 23, 2021) | |||
22-19176244-T-A | Uncertain significance (Sep 30, 2021) | |||
22-19176257-A-G | Likely benign (Dec 06, 2022) | |||
22-19176262-C-T | not specified | Likely benign (Oct 19, 2022) | ||
22-19176263-G-A | Benign/Likely benign (Nov 15, 2023) | |||
22-19176406-C-T | Likely benign (Nov 29, 2022) | |||
22-19176411-C-G | Likely benign (Aug 23, 2022) | |||
22-19176420-C-T | 2-hydroxyglutaric aciduria | Pathogenic (Jul 23, 2019) | ||
22-19176421-G-A | D,L-2-hydroxyglutaric aciduria | Likely pathogenic (Sep 03, 2019) |
GnomAD
Source:
dbNSFP
Source: