LINC02288

long intergenic non-protein coding RNA 2288, the group of Long intergenic non-protein coding RNAs

Basic information

Region (hg38): 14:77027711-77086720

Links

ENSG00000246548 ∙ NCBI:283575 ∙ ∙ HGNC:27505 ∙ ∙ ∙ 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 LINC02288 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LINC02288 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 LINC02288

This is a list of pathogenic ClinVar variants found in the LINC02288 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-77027714-T-G		IRF2BPL-related disorder	Likely benign (Nov 16, 2022)
14-77027719-G-T			Uncertain significance (Nov 01, 2019)
14-77027720-CCCAGGGCAT-C			Uncertain significance (Feb 02, 2023)
14-77027739-G-C		Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	Uncertain significance (May 12, 2023)
14-77027745-C-G		IRF2BPL-related disorder	Likely benign (Feb 09, 2023)
14-77027747-G-A		IRF2BPL-related disorder	Likely benign (Sep 18, 2019)
14-77027779-T-C			Uncertain significance (Mar 10, 2022)
14-77027787-C-G		IRF2BPL-related disorder	Likely benign (Jun 01, 2024)
14-77027788-G-A		Inborn genetic diseases	Uncertain significance (Aug 21, 2023)
14-77028130-G-A			Uncertain significance (Dec 05, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP