L3MBTL2-AS1

L3MBTL2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 22:41207592-41228500

Links

ENSG00000235513 ∙ NCBI:100506544 ∙ ∙ HGNC:40847 ∙ ∙ ∙ 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 L3MBTL2-AS1 gene.

• Inborn genetic diseases (25 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the L3MBTL2-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			24	1	3	28
Total	0	0	24	1	3

Variants in L3MBTL2-AS1

This is a list of pathogenic ClinVar variants found in the L3MBTL2-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
22-41209760-A-G		not specified	Uncertain significance (Jul 09, 2021)
22-41209772-G-C			Benign (Oct 29, 2020)
22-41209796-G-A		not specified	Uncertain significance (Apr 25, 2023)
22-41209836-A-T		not specified	Uncertain significance (Feb 17, 2024)
22-41209888-A-G		not specified	Uncertain significance (Mar 08, 2024)
22-41209901-C-A		not specified	Uncertain significance (Feb 27, 2023)
22-41209903-C-T		not specified	Uncertain significance (Mar 06, 2023)
22-41216260-A-T		not specified	Uncertain significance (Nov 08, 2022)
22-41217159-A-G		not specified	Uncertain significance (Jun 07, 2023)
22-41217177-C-T		not specified	Uncertain significance (Oct 26, 2022)
22-41219445-T-A		not specified	Uncertain significance (Jan 04, 2022)
22-41219470-G-C		not specified	Uncertain significance (Mar 01, 2023)
22-41219515-G-A		not specified	Uncertain significance (Sep 13, 2023)
22-41219521-G-A		not specified	Uncertain significance (Jun 28, 2022)
22-41220774-C-T			Benign (Jun 27, 2018)
22-41220782-A-T		not specified	Uncertain significance (Nov 06, 2023)
22-41220823-A-C		not specified	Uncertain significance (May 25, 2022)
22-41221219-G-A		not specified	Uncertain significance (Apr 25, 2023)
22-41221244-G-A		not specified	Uncertain significance (Jun 05, 2023)
22-41221246-C-G		not specified	Uncertain significance (Aug 12, 2021)
22-41221270-G-A		not specified	Uncertain significance (May 25, 2022)
22-41221284-C-G		not specified	Uncertain significance (Oct 27, 2023)
22-41224098-C-T		not specified	Uncertain significance (Sep 20, 2023)
22-41224134-C-T			Benign (Aug 06, 2018)
22-41224224-C-T		not specified	Uncertain significance (Jan 23, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP