LINC00581

long intergenic non-protein coding RNA 581, the group of Long intergenic non-protein coding RNAs

Basic information

Region (hg38): 6:21485618-21595593

Links

ENSG00000280989 ∙ NCBI:100874531 ∙ ∙ HGNC:43840 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the LINC00581 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LINC00581 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 LINC00581

This is a list of pathogenic ClinVar variants found in the LINC00581 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-21593970-C-A			Benign (May 16, 2021)
6-21594549-C-G			Likely benign (Jul 01, 2022)
6-21594561-G-C			Uncertain significance (Dec 09, 2023)
6-21594562-A-G			Uncertain significance (Feb 10, 2023)
6-21594566-C-T			Uncertain significance (Jan 03, 2023)
6-21594586-G-T		Coffin-Siris syndrome 10	Uncertain significance (Jun 06, 2024)
6-21594590-G-C		Inborn genetic diseases	Uncertain significance (Aug 28, 2023)
6-21594597-C-A		SOX4-related disorder	Likely benign (Apr 24, 2020)
6-21594616-C-G		SOX4-related disorder	Benign (Jun 01, 2024)
6-21594625-GC-AA		Coffin-Siris syndrome 10	Uncertain significance (Jul 20, 2023)
6-21594664-G-T		Neurodevelopmental disorder	Uncertain significance (May 10, 2021)
6-21594664-GGCA-CGCT		Coffin-Siris syndrome 10	Pathogenic (Feb 02, 2023)
6-21594683-G-C		Coffin-Siris syndrome 10	Uncertain significance (Jun 04, 2020)
6-21594707-A-C		Coffin-Siris syndrome 10	Uncertain significance (Mar 22, 2022)
6-21594710-T-G		Coffin-Siris syndrome 10 • Intellectual disability;Mild facial and digital morphological abnormalities;Developmental delay	Pathogenic/Likely pathogenic (Feb 02, 2023)
6-21594716-G-A			Conflicting classifications of pathogenicity (Feb 07, 2022)
6-21594721-A-G		not specified	Uncertain significance (Jul 05, 2024)
6-21594727-G-A		Coffin-Siris syndrome 10	Uncertain significance (Sep 23, 2020)
6-21594732-C-A		Intellectual disability, mild • Coffin-Siris syndrome 10 • Developmental delay;Mild facial and digital morphological abnormalities;Intellectual disability	Likely pathogenic (Feb 20, 2019)
6-21594747-G-A			Likely benign (Apr 10, 2018)
6-21594763-A-G			Uncertain significance (Sep 26, 2021)
6-21594778-C-T			Uncertain significance (May 12, 2023)
6-21594812-T-A			Uncertain significance (Nov 01, 2019)
6-21594815-G-A		Coffin-Siris syndrome 10	Likely pathogenic (Sep 20, 2023)
6-21594823-T-G			Pathogenic (May 27, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP