LRP4-AS1

LRP4 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 11:46846373-46874421

Links

ENSG00000247675 ∙ NCBI:100507401 ∙ ∙ HGNC:44128 ∙ ∙ ∙ 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 LRP4-AS1 gene.

• Cenani-Lenz syndactyly syndrome (75 variants)
• Cenani-Lenz syndactyly syndrome;Sclerosteosis 2;Congenital myasthenic syndrome 17 (65 variants)
• not provided (45 variants)
• Sclerosteosis 2;Cenani-Lenz syndactyly syndrome;Congenital myasthenic syndrome 17 (38 variants)
• Sclerosteosis 2;Congenital myasthenic syndrome 17;Cenani-Lenz syndactyly syndrome (30 variants)
• Congenital myasthenic syndrome 17;Cenani-Lenz syndactyly syndrome;Sclerosteosis 2 (30 variants)
• Congenital myasthenic syndrome 17;Sclerosteosis 2;Cenani-Lenz syndactyly syndrome (21 variants)
• Cenani-Lenz syndactyly syndrome;Congenital myasthenic syndrome 17;Sclerosteosis 2 (19 variants)
• Inborn genetic diseases (15 variants)
• not specified (4 variants)
• Congenital myasthenic syndrome 17 (2 variants)
• Sclerosteosis 2 (2 variants)
• Isolated hand syndactyly (1 variants)
• LRP4-related condition (1 variants)
• Bone Mineral Density Variation (1 variants)
• LRP4-Related Disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LRP4-AS1 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	1	1	158	93	21	274
Total	1	1	158	93	21

Variants in LRP4-AS1

This is a list of pathogenic ClinVar variants found in the LRP4-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-46856731-C-T		Cenani-Lenz syndactyly syndrome	Benign (Apr 27, 2017)
11-46856771-G-A		Cenani-Lenz syndactyly syndrome	Uncertain significance (Jan 13, 2018)
11-46856879-G-C		Cenani-Lenz syndactyly syndrome	Likely benign (Apr 27, 2017)
11-46856900-C-CA		Cenani-Lenz syndactyly syndrome	Uncertain significance (Jun 14, 2016)
11-46856903-A-G		Cenani-Lenz syndactyly syndrome	Benign (Apr 27, 2017)
11-46856929-G-A		Cenani-Lenz syndactyly syndrome	Likely benign (Jan 12, 2018)
11-46857156-TAC-T		Cenani-Lenz syndactyly syndrome	Likely benign (Jun 14, 2016)
11-46857256-C-T		Cenani-Lenz syndactyly syndrome	Uncertain significance (Jan 12, 2018)
11-46857321-G-T		Cenani-Lenz syndactyly syndrome	Uncertain significance (Jan 13, 2018)
11-46857356-T-C		Cenani-Lenz syndactyly syndrome	Benign (Apr 27, 2017)
11-46857397-A-C		Cenani-Lenz syndactyly syndrome	Uncertain significance (Jan 13, 2018)
11-46857437-G-A		Cenani-Lenz syndactyly syndrome	Uncertain significance (Jan 13, 2018)
11-46857516-G-A		Cenani-Lenz syndactyly syndrome	Uncertain significance (Jan 13, 2018)
11-46857538-T-C		Cenani-Lenz syndactyly syndrome	Benign (Apr 27, 2017)
11-46857648-C-T		Cenani-Lenz syndactyly syndrome	Uncertain significance (Apr 27, 2017)
11-46857648-C-CA		Cenani-Lenz syndactyly syndrome	Uncertain significance (Jun 14, 2016)
11-46857661-C-A		Cenani-Lenz syndactyly syndrome	Uncertain significance (Jan 13, 2018)
11-46857710-C-G		Cenani-Lenz syndactyly syndrome	Uncertain significance (Feb 09, 2018)
11-46857832-G-A		Cenani-Lenz syndactyly syndrome	Benign (Jan 12, 2018)
11-46857919-G-C		Cenani-Lenz syndactyly syndrome	Uncertain significance (Jan 12, 2018)
11-46857966-G-A		Cenani-Lenz syndactyly syndrome	Benign (Apr 27, 2017)
11-46858054-G-T		Cenani-Lenz syndactyly syndrome	Likely benign (Apr 27, 2017)
11-46858062-T-G		Cenani-Lenz syndactyly syndrome	Uncertain significance (Apr 27, 2017)
11-46858203-G-A		Cenani-Lenz syndactyly syndrome	Uncertain significance (Apr 27, 2017)
11-46858249-G-C		Cenani-Lenz syndactyly syndrome	Uncertain significance (Apr 27, 2017)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP