LMF1-AS1

LMF1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 16:921033-934495

Links

ENSG00000260439 ∙ NCBI:101929387 ∙ ∙ HGNC:50469 ∙ ∙ ∙ 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 LMF1-AS1 gene.

• not provided (5 variants)
• Lipase deficiency, combined (2 variants)
• LMF1-related condition (1 variants)
• Cardiovascular phenotype (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LMF1-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			4	1	3	8
Total	0	0	4	1	3

Variants in LMF1-AS1

This is a list of pathogenic ClinVar variants found in the LMF1-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
16-931723-G-A		not specified	Benign (Apr 09, 2025)
16-931754-T-C		not specified	Likely benign (Apr 09, 2025)
16-931792-C-T		Lipase deficiency, combined • not specified	Conflicting classifications of pathogenicity (Apr 09, 2025)
16-933990-C-T		LMF1-related disorder • Lipase deficiency, combined • not specified	Conflicting classifications of pathogenicity (Apr 09, 2025)
16-934003-G-C		LMF1-related disorder	Benign (Aug 30, 2018)
16-934017-C-T			Likely benign (May 27, 2019)
16-934026-G-T		LMF1-related disorder	Uncertain significance (Jul 31, 2024)
16-934109-T-A		LMF1-related disorder	Likely benign (Sep 15, 2024)
16-934113-C-A		not specified	Benign (Apr 09, 2025)
16-934234-T-A			Likely benign (Apr 30, 2024)
16-934244-C-T			Likely pathogenic (Dec 02, 2023)
16-934244-CGAAA-C			Pathogenic (Jul 06, 2023)
16-934246-A-C		Cardiovascular phenotype	Uncertain significance (Mar 30, 2024)
16-934246-A-G		Cardiovascular phenotype • Lipase deficiency, combined	Uncertain significance (Dec 02, 2021)
16-934263-C-A			Likely benign (May 31, 2024)
16-934444-G-A			Benign (Aug 30, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP