LIPE-AS1

LIPE antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 19:42387222-42796422

Links

ENSG00000213904 ∙ NCBI:100996307 ∙ ∙ HGNC:48589 ∙ ∙ ∙ 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 LIPE-AS1 gene.

• Inborn genetic diseases (84 variants)
• not provided (68 variants)
• not specified (16 variants)
• LIPE-related familial partial lipodystrophy (8 variants)
• LIPE-related condition (2 variants)
• See cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LIPE-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)					1	1
splice region						0
non coding	2	2	92	33	36	165
Total	2	2	92	33	37

Highest pathogenic variant AF is 0.00000657

Variants in LIPE-AS1

This is a list of pathogenic ClinVar variants found in the LIPE-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
19-42387350-T-C		not specified	Uncertain significance (Apr 27, 2024)
19-42387408-A-T		not specified	Uncertain significance (Dec 16, 2023)
19-42387444-C-A		not specified	Uncertain significance (Nov 21, 2022)
19-42387452-A-G		not specified	Uncertain significance (Jan 30, 2024)
19-42388958-C-G		not specified	Uncertain significance (May 05, 2023)
19-42401821-CCCCCCGCAGCCCCCGTCTA-C		LIPE-related familial partial lipodystrophy • LIPE-related disorder	Pathogenic/Likely pathogenic (Dec 01, 2023)
19-42401822-C-G		LIPE-related disorder	Likely benign (Sep 01, 2023)
19-42401825-C-T		Inborn genetic diseases	Uncertain significance (Feb 14, 2023)
19-42401831-C-G		LIPE-related familial partial lipodystrophy	Uncertain significance (May 20, 2023)
19-42401831-C-T		Inborn genetic diseases	Uncertain significance (Oct 29, 2021)
19-42401840-A-C		Inborn genetic diseases	Likely benign (Jan 04, 2024)
19-42401848-A-C			Likely benign (Dec 01, 2023)
19-42401852-C-G		Inborn genetic diseases	Uncertain significance (Dec 05, 2022)
19-42401852-C-T		Inborn genetic diseases	Uncertain significance (Apr 04, 2024)
19-42401855-G-C		Inborn genetic diseases	Uncertain significance (May 17, 2023)
19-42401871-C-G			Likely benign (Dec 31, 2019)
19-42401878-G-A			Likely benign (Dec 04, 2018)
19-42401878-G-C			Likely benign (Jul 01, 2024)
19-42401940-C-A		LIPE-related familial partial lipodystrophy	Likely pathogenic (Oct 10, 2023)
19-42401953-C-G		LIPE-related disorder	Likely benign (Jul 18, 2023)
19-42401964-G-T		LIPE-related familial partial lipodystrophy	Uncertain significance (Jan 11, 2024)
19-42401994-G-C		Inborn genetic diseases	Uncertain significance (Jul 22, 2022)
19-42402003-C-T		LIPE-related familial partial lipodystrophy • LIPE-related disorder	Uncertain significance (Aug 21, 2019)
19-42402015-G-C		Inborn genetic diseases	Uncertain significance (Jan 25, 2023)
19-42402058-G-A		not specified • LIPE-related disorder	Likely benign (Sep 01, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP