LINC01500
Basic information
Region (hg38): 14:58646631-59184247
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (11 variants)
- not provided (8 variants)
- Townes-Brocks syndrome 2 (3 variants)
- Rieger anomaly (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the LINC01500 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 | 14 | 23 | ||||
Total | 1 | 0 | 14 | 5 | 3 |
Variants in LINC01500
This is a list of pathogenic ClinVar variants found in the LINC01500 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
14-58646633-G-C | Rieger anomaly | Likely benign (Jan 01, 2013) | ||
14-58646653-G-A | not specified | Uncertain significance (May 30, 2023) | ||
14-58646658-T-C | Likely benign (Dec 31, 2019) | |||
14-58646682-T-C | DACT1-related disorder • not specified | Conflicting classifications of pathogenicity (Dec 13, 2023) | ||
14-58646686-A-G | not specified | Uncertain significance (Jan 31, 2022) | ||
14-58646692-C-T | not specified | Uncertain significance (May 12, 2024) | ||
14-58646711-C-T | DACT1-related disorder | Likely benign (Mar 22, 2019) | ||
14-58646712-G-A | DACT1-related disorder | Benign (Mar 13, 2019) | ||
14-58646731-G-A | not specified | Uncertain significance (Dec 19, 2023) | ||
14-58646743-C-T | Uncertain significance (Sep 01, 2022) | |||
14-58646751-C-T | not specified | Uncertain significance (Feb 16, 2023) | ||
14-58646758-C-T | not specified | Uncertain significance (Feb 22, 2023) | ||
14-58646760-T-A | Likely benign (Jul 02, 2018) | |||
14-58646763-G-T | DACT1-related disorder | Uncertain significance (Mar 24, 2024) | ||
14-58646769-C-T | not specified | Uncertain significance (Sep 20, 2023) | ||
14-58646775-G-A | not specified | Uncertain significance (Jan 10, 2022) | ||
14-58646812-G-A | not specified | Uncertain significance (Apr 06, 2024) | ||
14-58646818-C-A | not specified | Uncertain significance (Jun 22, 2023) | ||
14-58646844-A-T | not specified | Uncertain significance (May 24, 2023) | ||
14-58646855-C-T | DACT1-related disorder | Benign (Jul 13, 2018) | ||
14-58646856-G-A | Townes-Brocks syndrome 2 | Uncertain significance (Apr 28, 2022) | ||
14-58646874-A-G | not specified | Uncertain significance (Sep 01, 2021) | ||
14-58646877-A-G | not specified | Uncertain significance (Aug 30, 2021) | ||
14-58646882-C-T | Benign (Dec 31, 2019) | |||
14-58646903-T-A | not specified | Uncertain significance (Feb 05, 2024) |
GnomAD
Source:
dbNSFP
Source: