LAMA4-AS1

LAMA4 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 6:112236093-112307009

Links

ENSG00000226440 ∙ NCBI:101927640 ∙ ∙ HGNC:40333 ∙ ∙ ∙ 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 LAMA4-AS1 gene.

• Dilated cardiomyopathy 1JJ (45 variants)
• Cardiovascular phenotype (35 variants)
• not provided (16 variants)
• not specified (15 variants)
• Inborn genetic diseases (2 variants)
• Cardiomyopathy (1 variants)
• Dilated cardiomyopathy 1S (1 variants)
• Primary dilated cardiomyopathy (1 variants)
• Hypertrophic cardiomyopathy 1 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LAMA4-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			37	32	1	70
Total	0	0	37	32	1

Variants in LAMA4-AS1

This is a list of pathogenic ClinVar variants found in the LAMA4-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
6-112253812-A-G		not specified • Dilated cardiomyopathy 1JJ • LAMA4-related disorder	Benign (Aug 24, 2023)
6-112253825-G-C		not specified	Conflicting classifications of pathogenicity (Jan 12, 2020)
6-112253836-G-C		LAMA4-related disorder	Likely benign (Mar 30, 2020)
6-112253882-GAGA-G		Dilated cardiomyopathy 1JJ	Uncertain significance (Mar 30, 2021)
6-112253917-A-T		LAMA4-related disorder	Likely benign (Mar 22, 2021)
6-112253940-G-A		Dilated cardiomyopathy 1JJ	Likely benign (Feb 27, 2021)
6-112253950-CTG-C		not specified	Uncertain significance (Jun 11, 2012)
6-112253951-T-G		Dilated cardiomyopathy 1JJ	Uncertain significance (Apr 23, 2019)
6-112253952-G-A		Dilated cardiomyopathy 1JJ	Uncertain significance (Jan 11, 2022)
6-112253953-T-C		Dilated cardiomyopathy 1JJ	Uncertain significance (Aug 16, 2022)
6-112253957-T-A		Cardiovascular phenotype	Uncertain significance (Mar 18, 2020)
6-112253960-G-A		Dilated cardiomyopathy 1JJ • Cardiovascular phenotype	Conflicting classifications of pathogenicity (Mar 20, 2024)
6-112253960-GCCG-ACCA			Uncertain significance (Oct 12, 2023)
6-112253961-C-T		Cardiovascular phenotype	Uncertain significance (May 26, 2024)
6-112253962-C-G		Cardiovascular phenotype	Likely benign (Mar 07, 2024)
6-112253963-G-A		Primary dilated cardiomyopathy • Dilated cardiomyopathy 1JJ • Cardiovascular phenotype	Conflicting classifications of pathogenicity (Mar 20, 2024)
6-112253963-G-T		Dilated cardiomyopathy 1JJ	Uncertain significance (May 30, 2021)
6-112253982-G-A		Dilated cardiomyopathy 1JJ	Likely benign (Jan 19, 2019)
6-112253984-G-A		Dilated cardiomyopathy 1JJ • Cardiovascular phenotype • Cardiomyopathy	Conflicting classifications of pathogenicity (May 19, 2024)
6-112253988-C-A		Dilated cardiomyopathy 1JJ • Cardiovascular phenotype • LAMA4-related disorder	Uncertain significance (May 22, 2023)
6-112253994-G-T			Uncertain significance (Nov 27, 2018)
6-112253998-G-T		Dilated cardiomyopathy 1JJ • not specified • Cardiovascular phenotype	Uncertain significance (Dec 21, 2023)
6-112253999-C-G		Dilated cardiomyopathy 1JJ • Cardiovascular phenotype	Uncertain significance (May 01, 2023)
6-112254001-C-T		Dilated cardiomyopathy 1JJ • Cardiovascular phenotype	Likely benign (May 23, 2023)
6-112254010-C-A		not specified • Cardiovascular phenotype • Dilated cardiomyopathy 1JJ	Likely benign (Feb 10, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP