LINC01482

long intergenic non-protein coding RNA 1482, the group of Long intergenic non-protein coding RNAs

Basic information

Region (hg38): 17:68591782-68763882

Links

ENSG00000267659 ∙ NCBI:101928104 ∙ ∙ HGNC:51128 ∙ ∙ ∙ 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 LINC01482 gene.

• not provided (36 variants)
• Amelogenesis imperfecta type 1G (11 variants)
• Inborn genetic diseases (8 variants)
• not specified (2 variants)
• - (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LINC01482 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	3	1	16	19	6	45
Total	3	1	16	19	6

Highest pathogenic variant AF is 0.0000131

Variants in LINC01482

This is a list of pathogenic ClinVar variants found in the LINC01482 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-68600245-C-T		Amelogenesis imperfecta type 1G	Likely benign (Dec 02, 2021)
17-68600260-C-T			Benign (Jan 21, 2024)
17-68600261-A-C			Likely pathogenic (Sep 12, 2017)
17-68600272-C-G		Amelogenesis imperfecta type 1G	Uncertain significance (Feb 14, 2024)
17-68600273-G-A		Inborn genetic diseases	Uncertain significance (Aug 28, 2023)
17-68600273-G-C			Uncertain significance (Jan 23, 2017)
17-68600275-G-A		Amelogenesis imperfecta type 1G	Uncertain significance (Apr 14, 2024)
17-68600282-TC-GTTCCAGCGGG		Amelogenesis imperfecta type 1G	Uncertain significance (Feb 14, 2024)
17-68600299-AGCGCCTCCTGGCTGGCCAG-A		Amelogenesis imperfecta type 1G	Pathogenic (Nov 04, 2020)
17-68600302-G-A		Inborn genetic diseases	Uncertain significance (Mar 16, 2022)
17-68600310-G-A			Likely benign (Jan 20, 2021)
17-68600314-G-GCCAGGAGCGAGTCCTCGGCTC		Amelogenesis imperfecta type 1G	Uncertain significance (Jun 04, 2024)
17-68600322-C-A		Amelogenesis imperfecta type 1G	Conflicting classifications of pathogenicity (Feb 28, 2024)
17-68600322-C-G			Benign (Aug 07, 2023)
17-68600322-C-T		not specified	Benign (Jan 31, 2024)
17-68600325-G-A		Amelogenesis imperfecta type 1G	Likely benign (Dec 04, 2021)
17-68600327-C-T		Inborn genetic diseases	Uncertain significance (Oct 12, 2022)
17-68600328-C-G		Amelogenesis imperfecta type 1G	Uncertain significance (Jan 15, 2024)
17-68600338-A-T		Inborn genetic diseases	Uncertain significance (Jun 09, 2022)
17-68600341-A-G		Amelogenesis imperfecta type 1G	Uncertain significance (Mar 29, 2024)
17-68600343-A-C			Likely benign (Sep 28, 2022)
17-68600346-C-A			Likely benign (Nov 27, 2023)
17-68600346-C-G		Amelogenesis imperfecta type 1G	Likely benign (Dec 29, 2022)
17-68600351-C-T		Inborn genetic diseases • Amelogenesis imperfecta type 1G	Uncertain significance (Nov 26, 2024)
17-68600373-G-T			Uncertain significance (Jul 09, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP