TMEM202-AS1

TMEM202 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 15:72406416-72475168

Links

ENSG00000261423 ∙ NCBI:105370888 ∙ ∙ HGNC:53265 ∙ ∙ ∙ 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 TMEM202-AS1 gene.

• not provided (54 variants)
• Inborn genetic diseases (3 variants)
• Aortic aneurysm (2 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM202-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			34	20	3	57
Total	0	0	34	20	3

Variants in TMEM202-AS1

This is a list of pathogenic ClinVar variants found in the TMEM202-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
15-72406632-T-G		not specified	Uncertain significance (Mar 19, 2024)
15-72406686-T-A		not specified	Uncertain significance (Sep 27, 2021)
15-72406740-G-A		not specified	Uncertain significance (Mar 04, 2024)
15-72407106-C-T		not specified	Uncertain significance (Mar 21, 2024)
15-72407121-G-A		not specified	Uncertain significance (May 29, 2024)
15-72407142-A-T		not specified	Uncertain significance (Sep 01, 2021)
15-72407172-A-G		not specified	Likely benign (Jun 19, 2024)
15-72407175-T-C		not specified	Uncertain significance (Dec 20, 2023)
15-72407210-G-A		not specified	Uncertain significance (Oct 18, 2021)
15-72407711-T-A		not specified	Uncertain significance (May 27, 2022)
15-72407724-G-T		not specified	Uncertain significance (Mar 25, 2024)
15-72407747-G-A		not specified	Uncertain significance (May 02, 2024)
15-72407790-C-T		not specified	Uncertain significance (Jan 24, 2024)
15-72407862-A-G		not specified	Uncertain significance (Nov 22, 2023)
15-72474660-C-T			Likely benign (Oct 22, 2021)
15-72474682-G-C		Aortic aneurysm	association (-)
15-72474683-A-C			Uncertain significance (Dec 28, 2023)
15-72474693-TGAG-T			Benign (Oct 28, 2023)
15-72474693-TGAGGAGGACAGCGGCGCCGAGGAG-T			Uncertain significance (Dec 15, 2022)
15-72474699-G-C			Uncertain significance (Sep 17, 2023)
15-72474708-C-T			Likely benign (Sep 01, 2023)
15-72474711-CGAG-C		Familial thoracic aortic aneurysm and aortic dissection • ARIH1-related disorder	Benign/Likely benign (Jan 29, 2024)
15-72474711-C-CGAG			Uncertain significance (Mar 18, 2022)
15-72474716-A-C			Uncertain significance (May 08, 2023)
15-72474716-A-G			Uncertain significance (Aug 07, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP