LINC01500

long intergenic non-protein coding RNA 1500, the group of Long intergenic non-protein coding RNAs

Basic information

Region (hg38): 14:58646631-59184247

Links

ENSG00000258583NCBI:102723742HGNC:51166GenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the LINC01500 gene.

  • 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
1
clinvar
14
clinvar
5
clinvar
3
clinvar
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)221948
14-58646653-G-A not specified Uncertain significance (May 30, 2023)2522290
14-58646658-T-C Likely benign (Dec 31, 2019)734469
14-58646682-T-C DACT1-related disorder • not specified Conflicting classifications of pathogenicity (Dec 13, 2023)743594
14-58646686-A-G not specified Uncertain significance (Jan 31, 2022)2274722
14-58646692-C-T not specified Uncertain significance (May 12, 2024)3270801
14-58646711-C-T DACT1-related disorder Likely benign (Mar 22, 2019)3058180
14-58646712-G-A DACT1-related disorder Benign (Mar 13, 2019)1257885
14-58646731-G-A not specified Uncertain significance (Dec 19, 2023)3079947
14-58646743-C-T Uncertain significance (Sep 01, 2022)2644263
14-58646751-C-T not specified Uncertain significance (Feb 16, 2023)2486467
14-58646758-C-T not specified Uncertain significance (Feb 22, 2023)2487718
14-58646760-T-A Likely benign (Jul 02, 2018)725257
14-58646763-G-T DACT1-related disorder Uncertain significance (Mar 24, 2024)3348444
14-58646769-C-T not specified Uncertain significance (Sep 20, 2023)3079948
14-58646775-G-A not specified Uncertain significance (Jan 10, 2022)2399217
14-58646812-G-A not specified Uncertain significance (Apr 06, 2024)3270806
14-58646818-C-A not specified Uncertain significance (Jun 22, 2023)2605083
14-58646844-A-T not specified Uncertain significance (May 24, 2023)2551646
14-58646855-C-T DACT1-related disorder Benign (Jul 13, 2018)709909
14-58646856-G-A Townes-Brocks syndrome 2 Uncertain significance (Apr 28, 2022)1709329
14-58646874-A-G not specified Uncertain significance (Sep 01, 2021)2248534
14-58646877-A-G not specified Uncertain significance (Aug 30, 2021)2247572
14-58646882-C-T Benign (Dec 31, 2019)722984
14-58646903-T-A not specified Uncertain significance (Feb 05, 2024)3079949

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP