TMPO-AS1

TMPO antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 12:98512791-98516422

Links

ENSG00000257167 ∙ NCBI:100128191 ∙ ∙ HGNC:44158 ∙ ∙ ∙ 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 TMPO-AS1 gene.

• Loeys-Dietz syndrome 2 (53 variants)
• Inborn genetic diseases (46 variants)
• not provided (17 variants)
• not specified (14 variants)
• Cardiovascular phenotype (2 variants)
• Primary familial hypertrophic cardiomyopathy (1 variants)
• Dilated Cardiomyopathy, Dominant (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMPO-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)			2	3		5
splice region						0
non coding			44	44	3	91
Total	0	0	46	47	3

Variants in TMPO-AS1

This is a list of pathogenic ClinVar variants found in the TMPO-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
12-98515429-C-T			Benign (Jun 14, 2018)
12-98515742-A-T		Dilated Cardiomyopathy, Dominant	Uncertain significance (Jun 14, 2016)
12-98515857-A-C		not specified	Benign/Likely benign (Oct 19, 2020)
12-98515866-A-T			Uncertain significance (Jul 13, 2023)
12-98515867-G-C		not specified	Uncertain significance (Feb 15, 2018)
12-98515872-C-T		Loeys-Dietz syndrome 2	Uncertain significance (Dec 25, 2021)
12-98515880-C-T		Loeys-Dietz syndrome 2 • not specified	Benign/Likely benign (Feb 11, 2023)
12-98515886-G-C		not specified	Uncertain significance (Apr 17, 2023)
12-98515891-C-T		Cardiovascular phenotype	Likely benign (Dec 10, 2012)
12-98515893-C-T		not specified	Uncertain significance (Apr 18, 2023)
12-98515903-A-G		Loeys-Dietz syndrome 2 • not specified	Likely benign (Jan 09, 2024)
12-98515913-T-C		not specified	Likely benign (May 09, 2022)
12-98515915-G-A		Loeys-Dietz syndrome 2	Likely benign (Dec 15, 2020)
12-98515918-G-A		Loeys-Dietz syndrome 2 • not specified	Likely benign (Jan 13, 2024)
12-98515919-A-G		Loeys-Dietz syndrome 2	Uncertain significance (Jan 08, 2021)
12-98515921-T-G		not specified	Uncertain significance (Jan 27, 2024)
12-98515930-C-A		Loeys-Dietz syndrome 2	Likely benign (May 31, 2022)
12-98515933-C-T		Loeys-Dietz syndrome 2	Likely benign (Nov 26, 2021)
12-98515937-A-C		not specified • Loeys-Dietz syndrome 2	Uncertain significance (Oct 03, 2023)
12-98515939-T-C		not specified • Loeys-Dietz syndrome 2	Likely benign (Sep 15, 2021)
12-98515939-T-G		not specified	Uncertain significance (Dec 25, 2023)
12-98515944-C-G		not specified	Uncertain significance (Jul 27, 2023)
12-98515944-C-T		not specified	Uncertain significance (Mar 08, 2013)
12-98515946-C-CT			Uncertain significance (Jan 17, 2023)
12-98515948-G-T		Loeys-Dietz syndrome 2	Benign (Jul 29, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP