LINC00571

long intergenic non-protein coding RNA 571, the group of Long intergenic non-protein coding RNAs

Basic information

Region (hg38): 13:38050817-38350284

Links

ENSG00000223685HGNC:43721GenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the LINC00571 gene.

  • not provided (13 variants)
  • Leukodystrophy, hypomyelinating, 14 (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LINC00571 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
2
clinvar
7
clinvar
4
clinvar
2
clinvar
15
Total 0 2 7 4 2

Highest pathogenic variant AF is 0.00000657

Variants in LINC00571

This is a list of pathogenic ClinVar variants found in the LINC00571 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
13-38349764-TTCA-T Leukodystrophy, hypomyelinating, 14 Pathogenic/Likely pathogenic (Dec 12, 2023)495149
13-38349920-A-G Leukodystrophy, hypomyelinating, 14 Likely pathogenic (Oct 21, 2022)2428600
13-38349922-G-A Congenital long QT syndrome Likely pathogenic (-)3358901
13-38349925-A-C UFM1-related disorder Likely benign (Feb 27, 2019)3049451
13-38349946-A-T Leukodystrophy, hypomyelinating, 14 Benign (Dec 05, 2021)1684234
13-38350046-C-T UFM1-related disorder Likely benign (Jun 12, 2019)3034495
13-38350047-G-A Likely benign (Feb 01, 2024)3024786
13-38350124-G-A Uncertain significance (Jan 02, 2024)2090350
13-38350126-T-C Benign (Jan 31, 2024)1168539
13-38350126-T-G Likely benign (Jun 21, 2023)1982787
13-38350130-C-T Uncertain significance (Nov 22, 2022)1353994
13-38350132-A-G Likely benign (Mar 08, 2022)1946254
13-38350145-C-G Uncertain significance (Nov 23, 2021)1512215
13-38350148-A-C Uncertain significance (Mar 16, 2022)2113019
13-38350159-C-T Likely benign (Jul 03, 2022)1934355
13-38350164-C-T Uncertain significance (Sep 17, 2021)1420890
13-38350167-C-T Uncertain significance (Aug 04, 2023)2121886
13-38350173-C-CT Uncertain significance (Dec 07, 2023)1464997
13-38350245-A-G Likely benign (Sep 27, 2022)1140527

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP