LRCOL1

leucine rich colipase like 1

Basic information

Region (hg38): 12:132603150-132610582

Links

ENSG00000204583 ∙ NCBI:100507055 ∙ ∙ HGNC:44160 ∙ Uniprot:A6NCL2 ∙ AlphaFold ∙ 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 LRCOL1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LRCOL1 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			8	2		10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	2	0

Variants in LRCOL1

This is a list of pathogenic ClinVar variants found in the LRCOL1 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-132604325-T-C		not specified	Uncertain significance (Jun 22, 2024)
12-132604466-C-G		not specified	Uncertain significance (Jan 09, 2024)
12-132604491-C-T		not specified	Likely benign (Jul 21, 2022)
12-132604502-G-A		not specified	Uncertain significance (Oct 26, 2022)
12-132604530-G-A		not specified	Uncertain significance (Oct 06, 2021)
12-132604530-G-C		not specified	Uncertain significance (Sep 20, 2023)
12-132604560-C-T		not specified	Likely benign (Dec 01, 2023)
12-132604571-C-G		not specified	Uncertain significance (Jul 12, 2023)
12-132604764-G-C		not specified	Uncertain significance (Dec 04, 2023)
12-132606190-A-G		not specified	Uncertain significance (May 27, 2022)
12-132606194-A-T		not specified	Uncertain significance (Aug 02, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Mouse Genome Informatics

• Gene name: Lrcol1

Gene ontology

• Biological process: digestion;lipid catabolic process;response to food;positive regulation of catalytic activity
• Cellular component: extracellular region
• Molecular function: enzyme activator activity