LINC01820

long intergenic non-protein coding RNA 1820, the group of Long intergenic non-protein coding RNAs

Basic information

Region (hg38): 2:46347186-46429238

Links

ENSG00000228100 ∙ NCBI:105374582 ∙ ∙ HGNC:52625 ∙ ∙ ∙ 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 LINC01820 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LINC01820 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 LINC01820

This is a list of pathogenic ClinVar variants found in the LINC01820 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-46356048-A-T			Benign (Jun 22, 2018)
2-46356096-C-A			Benign (Jun 22, 2018)
2-46356133-AC-A		not specified	Benign (Aug 15, 2023)
2-46356133-ACCC-A			Benign (Jan 17, 2024)
2-46356133-A-ACC		EPAS1-related disorder	Likely benign (Sep 29, 2020)
2-46356137-C-CG		Familial erythrocytosis	Likely benign (Jan 01, 2023)
2-46356139-C-A		Erythrocytosis, familial, 4	Benign/Likely benign (Apr 01, 2023)
2-46356139-C-T		Erythrocytosis, familial, 4	Benign (Jan 13, 2018)
2-46356139-C-CG			Benign (Jun 22, 2018)
2-46356140-C-G		Erythrocytosis, familial, 4	Benign/Likely benign (Jan 01, 2023)
2-46356140-C-T		Erythrocytosis, familial, 4	Benign (Jun 22, 2018)
2-46356140-C-CG		Familial erythrocytosis	Uncertain significance (Jun 14, 2016)
2-46356140-C-CT			Benign (Jul 11, 2019)
2-46356141-C-A		Erythrocytosis, familial, 4	Benign/Likely benign (Aug 08, 2018)
2-46356140-C-CCT		Familial erythrocytosis	Uncertain significance (Jun 14, 2016)
2-46356140-C-CGCT			Benign (Aug 01, 2023)
2-46356141-C-CT		EPAS1-related disorder	Benign (Nov 20, 2019)
2-46356142-C-T		Erythrocytosis, familial, 4	Benign (Jun 22, 2018)
2-46356142-C-CT		Familial erythrocytosis	Benign (Jun 22, 2018)
2-46356142-C-CCT		Familial erythrocytosis • EPAS1-related disorder	Likely benign (Jun 14, 2016)
2-46356142-C-CGCTCT			Likely benign (Jan 17, 2024)
2-46356153-T-C		Inborn genetic diseases	Uncertain significance (Nov 29, 2023)
2-46356153-T-G		Inborn genetic diseases	Uncertain significance (Feb 16, 2024)
2-46356154-G-C		Inborn genetic diseases	Uncertain significance (Apr 19, 2022)
2-46356157-C-G		Inborn genetic diseases	Uncertain significance (Apr 23, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP