LINC01752

long intergenic non-protein coding RNA 1752, the group of Long intergenic non-protein coding RNAs

Basic information

Region (hg38): 20:10672695-10914535

Links

ENSG00000224961 ∙ NCBI:101929395 ∙ ∙ HGNC:52540 ∙ ∙ ∙ 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 LINC01752 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LINC01752 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 LINC01752

This is a list of pathogenic ClinVar variants found in the LINC01752 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-10672699-A-G			Pathogenic (Jun 28, 2017)
20-10672700-C-A			Likely pathogenic (May 28, 2021)
20-10672700-C-G		Alagille syndrome due to a JAG1 point mutation	Likely pathogenic (-)
20-10672700-C-T		Alagille syndrome due to a JAG1 point mutation	Likely pathogenic (Dec 07, 2022)
20-10672701-C-T		Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Sep 01, 2021)
20-10672702-G-T		Arteriohepatic dysplasia	not provided (-)
20-10672704-C-T			Pathogenic (Jan 15, 2021)
20-10672706-A-G			Uncertain significance (Aug 22, 2018)
20-10672708-G-T		Arteriohepatic dysplasia	not provided (-)
20-10672709-C-A		Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Jun 13, 2024)
20-10672709-C-T		Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Aug 31, 2022)
20-10672710-G-C		Arteriohepatic dysplasia	not provided (-)
20-10672710-GA-TT		Alagille syndrome due to a JAG1 point mutation	Pathogenic (Apr 20, 2023)
20-10672711-A-T		Arteriohepatic dysplasia	not provided (-)
20-10672712-A-C		Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Dec 04, 2024)
20-10672713-A-C		Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Jul 26, 2021)
20-10672714-C-T		Arteriohepatic dysplasia	not provided (-)
20-10672715-T-C		Alagille syndrome due to a JAG1 point mutation	Likely benign (Sep 27, 2022)
20-10672716-G-C		Arteriohepatic dysplasia	not provided (-)
20-10672716-G-T		Arteriohepatic dysplasia	not provided (-)
20-10672717-A-C		Arteriohepatic dysplasia	not provided (-)
20-10672717-A-G		Arteriohepatic dysplasia	not provided (-)
20-10672717-A-T		Arteriohepatic dysplasia	not provided (-)
20-10672720-G-A		Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Oct 17, 2021)
20-10672721-G-T		Arteriohepatic dysplasia	not provided (-)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP