LAMA5-AS1

LAMA5 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 20:62352970-62356482

Links

ENSG00000228812 ∙ NCBI:101928158 ∙ ∙ HGNC:40334 ∙ ∙ ∙ 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 LAMA5-AS1 gene.

• not provided (7 variants)
• LAMA5-related condition (1 variants)
• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LAMA5-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			3	2	4	9
Total	0	0	3	2	4

Variants in LAMA5-AS1

This is a list of pathogenic ClinVar variants found in the LAMA5-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
20-62353012-C-T			Benign (May 13, 2021)
20-62353047-C-T			Benign (May 12, 2021)
20-62353117-C-A			Benign (Oct 17, 2024)
20-62353119-G-A			Likely benign (Jun 11, 2023)
20-62353120-C-T			Benign (Aug 06, 2022)
20-62353127-G-A			Likely benign (Jun 21, 2024)
20-62353144-C-T		LAMA5-related disorder	Likely benign (Jun 30, 2024)
20-62353146-G-T		Inborn genetic diseases	Uncertain significance (Dec 07, 2023)
20-62353166-C-T		LAMA5-related disorder	Uncertain significance (Oct 03, 2022)
20-62353168-G-A			Likely benign (Mar 30, 2023)
20-62353181-C-T		Inborn genetic diseases	Uncertain significance (Oct 26, 2022)
20-62353201-C-T			Likely benign (Jan 25, 2024)
20-62353223-T-C		Inborn genetic diseases	Uncertain significance (Feb 06, 2025)
20-62353248-A-G			Uncertain significance (Jan 15, 2024)
20-62353258-G-A			Likely benign (Dec 12, 2024)
20-62353268-C-T			Likely benign (Jul 19, 2024)
20-62353269-G-A			Benign (Nov 23, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP