LINC00323

long intergenic non-protein coding RNA 323, the group of Long intergenic non-protein coding RNAs

Basic information

Region (hg38): 21:41141493-41168796

Previous symbols: [ "C21orf130", "NCRNA00323" ]

Links

ENSG00000226496 ∙ NCBI:284835 ∙ ∙ HGNC:19720 ∙ ∙ ∙ 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 LINC00323 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LINC00323 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 LINC00323

This is a list of pathogenic ClinVar variants found in the LINC00323 region.

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

Position	Type	Phenotype	Significance	ClinVar
21-41168276-G-A		not specified	Uncertain significance (Jan 18, 2025)
21-41168295-C-T		not specified	Uncertain significance (Nov 14, 2024)
21-41168334-T-C		not specified	Uncertain significance (Nov 13, 2024)
21-41168337-C-T		not specified	Uncertain significance (Jun 17, 2024)
21-41168349-T-C		not specified	Uncertain significance (Jan 20, 2023)
21-41168355-T-C		not specified	Uncertain significance (Jan 19, 2025)
21-41168358-C-A		not specified	Uncertain significance (Mar 11, 2024)
21-41168374-G-A		BACE2-related disorder	Benign (Jan 02, 2020)
21-41168391-T-C		not specified	Likely benign (Apr 06, 2024)
21-41168402-C-T		not specified	Uncertain significance (Mar 06, 2023)
21-41168411-G-A		not specified	Uncertain significance (Feb 06, 2023)
21-41168429-C-T			Benign (Aug 20, 2018)
21-41168454-T-A		not specified	Uncertain significance (Jul 08, 2022)
21-41168486-G-A		not specified	Uncertain significance (Mar 19, 2024)
21-41168527-T-A		BACE2-related disorder	Likely benign (Jun 28, 2018)
21-41168548-G-C		not specified	Uncertain significance (Nov 08, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP