ACTN1-DT

ACTN1 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 14:68978862-68987463

Previous symbols: [ "C14orf84", "ACTN1-AS1" ]

Links

ENSG00000259062 ∙ NCBI:161159 ∙ ∙ HGNC:20131 ∙ ∙ ∙ 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 ACTN1-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACTN1-DT 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						0
Total	0	0	0	0	0

Variants in ACTN1-DT

This is a list of pathogenic ClinVar variants found in the ACTN1-DT region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
14-68978929-A-G			Benign (Jun 18, 2021)
14-68978934-G-A			Benign (Jan 30, 2025)
14-68978935-C-CG			Benign (Nov 24, 2023)
14-68978962-T-C			Uncertain significance (Jul 16, 2023)
14-68978963-G-T		Platelet-type bleeding disorder 15	Pathogenic (Mar 07, 2013)
14-68978982-C-T			Likely benign (Oct 24, 2024)
14-68979026-C-T			Uncertain significance (Oct 14, 2023)
14-68979028-T-C		Platelet-type bleeding disorder 15	Uncertain significance (Oct 09, 2023)
14-68979141-A-AGGGCT			Benign (Nov 10, 2018)
14-68979396-C-A			Benign (Nov 10, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP