TMC3-AS1

TMC3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 15:81324301-81696991

Links

ENSG00000259343 ∙ NCBI:101929655 ∙ ∙ HGNC:51424 ∙ ∙ ∙ 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 TMC3-AS1 gene.

• Inborn genetic diseases (51 variants)
• not provided (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 TMC3-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			47	6	1	54
Total	0	0	47	6	1

Variants in TMC3-AS1

This is a list of pathogenic ClinVar variants found in the TMC3-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
15-81332430-A-T		not specified	Uncertain significance (Aug 09, 2021)
15-81332437-C-G		not specified	Uncertain significance (Feb 23, 2023)
15-81332553-C-T		not specified	Likely benign (Apr 20, 2024)
15-81332560-G-T		not specified	Uncertain significance (Dec 03, 2021)
15-81332577-T-C		not specified	Uncertain significance (Sep 26, 2023)
15-81332588-G-T		not specified	Benign (Nov 06, 2015)
15-81332606-G-A			Likely benign (Jun 01, 2022)
15-81332620-G-T		not specified	Uncertain significance (Jan 04, 2024)
15-81332640-G-A		not specified	Uncertain significance (Aug 12, 2022)
15-81332661-A-G		not specified	Uncertain significance (Jul 06, 2022)
15-81332775-G-C		not specified	Uncertain significance (Jan 10, 2023)
15-81332790-A-T		not specified	Uncertain significance (Mar 18, 2024)
15-81332794-C-G		not specified	Uncertain significance (Jan 26, 2022)
15-81332798-C-T		not specified	Uncertain significance (May 11, 2022)
15-81332801-A-G		not specified	Uncertain significance (May 23, 2023)
15-81332819-C-T		not specified	Uncertain significance (Sep 14, 2022)
15-81332858-T-C		not specified	Uncertain significance (Dec 26, 2023)
15-81332925-G-C		not specified	Uncertain significance (Mar 30, 2024)
15-81332949-C-T		not specified	Likely benign (Feb 15, 2023)
15-81332950-G-C		not specified	Uncertain significance (Feb 04, 2022)
15-81333081-T-A		not specified	Uncertain significance (Mar 15, 2024)
15-81333093-C-T		not specified	Likely benign (Feb 15, 2023)
15-81333101-G-A		not specified	Uncertain significance (Jun 28, 2023)
15-81333114-G-T		not specified	Uncertain significance (Nov 15, 2021)
15-81333131-T-C		not specified	Uncertain significance (May 25, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP