LRP1-AS

LRP1 antisense RNA, the group of Antisense RNAs

Basic information

Region (hg38): 12:57144620-57147692

Links

ENSG00000259125 ∙ NCBI:105751187 ∙ ∙ HGNC:51694 ∙ ∙ ∙ 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 LRP1-AS gene.

• Inborn genetic diseases (4 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LRP1-AS 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			4		3	7
Total	0	0	4	0	3

Variants in LRP1-AS

This is a list of pathogenic ClinVar variants found in the LRP1-AS region.

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

Position	Type	Phenotype	Significance	ClinVar
12-57144994-C-T		LRP1-related disorder	Likely benign (Jun 17, 2019)
12-57145012-A-G			Benign (Mar 29, 2018)
12-57145066-G-A			Benign (Oct 28, 2017)
12-57145071-C-T		not specified	Uncertain significance (Dec 27, 2023)
12-57145284-C-T		not specified	Uncertain significance (Apr 07, 2023)
12-57145299-C-T		LRP1-related disorder	Benign (Mar 27, 2019)
12-57145319-C-G		Developmental dysplasia of the hip 3	Pathogenic (Jan 26, 2024)
12-57145334-C-A		not specified	Uncertain significance (Apr 23, 2024)
12-57145362-C-T		not specified	Uncertain significance (Sep 01, 2021)
12-57145365-A-G		not specified	Uncertain significance (Mar 04, 2024)
12-57145373-G-A		not specified	Uncertain significance (Jun 17, 2024)
12-57145411-G-A			Benign (Dec 31, 2019)
12-57145454-G-A		not specified	Uncertain significance (Dec 03, 2021)
12-57145487-C-T		not specified	Uncertain significance (Dec 21, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP