TAGAP-AS1

TAGAP antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 6:158988178-159088114

Links

ENSG00000271913 ∙ NCBI:105378083 ∙ ∙ HGNC:55239 ∙ ∙ ∙ 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 TAGAP-AS1 gene.

• Primary ciliary dyskinesia 32 (80 variants)
• not provided (22 variants)
• Inborn genetic diseases (18 variants)
• Ciliary dyskinesia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAGAP-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	9	1	57	29	14	110
Total	9	1	58	29	14

Highest pathogenic variant AF is 0.0000657

Variants in TAGAP-AS1

This is a list of pathogenic ClinVar variants found in the TAGAP-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
6-158993576-C-T			Benign (Mar 25, 2019)
6-158993635-C-T			Likely benign (Feb 05, 2019)
6-158993655-G-C			Benign (Sep 07, 2019)
6-158993779-C-T			Benign (Nov 12, 2018)
6-158993811-G-A			Benign (Nov 12, 2018)
6-158993819-A-G		Primary ciliary dyskinesia 32	Likely benign (Feb 14, 2023)
6-158993821-T-C		Primary ciliary dyskinesia 32	Likely benign (Jun 21, 2023)
6-158993823-T-C		Primary ciliary dyskinesia 32	Likely benign (Jun 20, 2023)
6-158993840-A-T		Primary ciliary dyskinesia 32	Uncertain significance (Sep 07, 2022)
6-158993853-G-A		Primary ciliary dyskinesia 32	Pathogenic (Jul 02, 2015)
6-158993864-G-C		Primary ciliary dyskinesia 32	Uncertain significance (Sep 13, 2022)
6-158993866-G-A		Primary ciliary dyskinesia 32	Likely benign (Nov 02, 2023)
6-158993867-T-C		Primary ciliary dyskinesia 32	Benign (Jan 31, 2024)
6-158993873-C-T		Primary ciliary dyskinesia 32 • Inborn genetic diseases	Uncertain significance (May 28, 2024)
6-158993874-G-A		Primary ciliary dyskinesia 32	Pathogenic (Nov 27, 2023)
6-158993886-T-C		Primary ciliary dyskinesia 32 • Inborn genetic diseases	Conflicting classifications of pathogenicity (Oct 02, 2023)
6-158993894-A-G		Primary ciliary dyskinesia 32	Uncertain significance (Dec 13, 2021)
6-158993902-T-C		Primary ciliary dyskinesia 32	Benign (Oct 26, 2022)
6-158994223-T-C			Likely benign (Mar 06, 2019)
6-158999421-G-A		Primary ciliary dyskinesia 32	Benign (Dec 18, 2023)
6-158999423-T-A		Primary ciliary dyskinesia 32	Likely benign (Mar 18, 2022)
6-158999428-C-T		Primary ciliary dyskinesia 32	Likely benign (Dec 02, 2023)
6-158999432-C-T		Primary ciliary dyskinesia 32	Uncertain significance (Aug 20, 2017)
6-158999462-C-T		Primary ciliary dyskinesia 32	Uncertain significance (Oct 24, 2022)
6-158999479-T-C		Primary ciliary dyskinesia 32	Likely benign (Aug 10, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP