LINC01322

long intergenic non-protein coding RNA 1322, the group of Long intergenic non-protein coding RNAs

Basic information

Region (hg38): 3:165206440-165846519

Links

ENSG00000244128 ∙ NCBI:103695433 ∙ ∙ HGNC:50528 ∙ ∙ ∙ 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 LINC01322 gene.

• Deficiency of butyrylcholinesterase (114 variants)
• Inborn genetic diseases (25 variants)
• not provided (22 variants)
• not specified (12 variants)
• BCHE-related condition (4 variants)
• BCHE, fluoride 2 (1 variants)
• Butyrylcholinesterase activity (1 variants)
• BCHE, H variant (1 variants)
• - (1 variants)
• See cases (1 variants)
• Suxamethonium response - slow metabolism (1 variants)
• BCHE, flouride 1 (1 variants)
• Pseudocholinesterase deficiency (1 variants)
• Butyrylcholinesterase deficiency, fluoride-resistant, Japanese type (1 variants)
• BCHE, J variant (1 variants)
• Postanesthetic apnea (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LINC01322 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	5	48	80	15	5	153
Total	5	48	80	15	5

Highest pathogenic variant AF is 0.000335

Variants in LINC01322

This is a list of pathogenic ClinVar variants found in the LINC01322 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-165772915-G-C		Deficiency of butyrylcholinesterase	Uncertain significance (Jan 12, 2018)
3-165772982-A-G		Deficiency of butyrylcholinesterase	Uncertain significance (Jan 12, 2018)
3-165773033-C-T		Deficiency of butyrylcholinesterase	Likely benign (Jan 12, 2018)
3-165773066-A-T		Deficiency of butyrylcholinesterase	Uncertain significance (Jan 13, 2018)
3-165773088-G-GA		Deficiency of butyrylcholinesterase	Benign (Jun 14, 2016)
3-165773097-A-G		Deficiency of butyrylcholinesterase	Uncertain significance (Jan 13, 2018)
3-165773101-T-G		Deficiency of butyrylcholinesterase	Uncertain significance (Jan 13, 2018)
3-165773145-T-C		Deficiency of butyrylcholinesterase	Uncertain significance (Jan 12, 2018)
3-165773193-C-T		Deficiency of butyrylcholinesterase	Benign (Jan 12, 2018)
3-165773202-C-T		Deficiency of butyrylcholinesterase	Likely benign (Jan 13, 2018)
3-165773208-G-A		Deficiency of butyrylcholinesterase	Uncertain significance (Jan 12, 2018)
3-165773243-A-T		Deficiency of butyrylcholinesterase	Uncertain significance (Jan 12, 2018)
3-165773330-T-C		Deficiency of butyrylcholinesterase	Uncertain significance (Jan 12, 2018)
3-165773343-C-A		Deficiency of butyrylcholinesterase	Uncertain significance (Jan 12, 2018)
3-165773369-G-A		Deficiency of butyrylcholinesterase	Uncertain significance (Jan 12, 2018)
3-165773388-AC-A		not specified	Uncertain significance (Dec 07, 2023)
3-165773389-C-A		Deficiency of butyrylcholinesterase	Uncertain significance (Jan 12, 2018)
3-165773391-C-G			Likely benign (Nov 01, 2022)
3-165773397-A-G			Likely benign (May 01, 2023)
3-165773410-C-A		Inborn genetic diseases	Uncertain significance (May 21, 2024)
3-165773414-T-C		Inborn genetic diseases	Uncertain significance (Jun 16, 2024)
3-165773421-G-A		Deficiency of butyrylcholinesterase	Uncertain significance (Jan 13, 2018)
3-165773455-T-C		Deficiency of butyrylcholinesterase • Inborn genetic diseases	Conflicting classifications of pathogenicity (Dec 21, 2022)
3-165773470-C-CCTGCTTTCCACTCCCATT		Deficiency of butyrylcholinesterase	Uncertain significance (May 10, 2017)
3-165773491-G-A		Inborn genetic diseases	Uncertain significance (Apr 27, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP