EPM2A-DT

EPM2A divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 6:145799409-145911493

Previous symbols: [ "FBXO30-DT" ]

Links

ENSG00000235652 ∙ NCBI:100507557 ∙ ∙ HGNC:48990 ∙ ∙ ∙ 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 EPM2A-DT gene.

• Inborn genetic diseases (10 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EPM2A-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			10	1		11
Total	0	0	10	1	0

Variants in EPM2A-DT

This is a list of pathogenic ClinVar variants found in the EPM2A-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
6-145800189-T-C		not specified	Uncertain significance (Mar 01, 2023)
6-145800200-C-T		not specified	Uncertain significance (Apr 30, 2024)
6-145800238-G-C		not specified	Uncertain significance (Jun 22, 2021)
6-145800276-T-G		not specified	Uncertain significance (Mar 18, 2024)
6-145800302-C-T		not specified	Uncertain significance (Dec 31, 2023)
6-145804608-G-T		not specified	Uncertain significance (Oct 05, 2022)
6-145804920-A-C		not specified	Uncertain significance (Dec 13, 2023)
6-145804978-C-G		not specified	Uncertain significance (Jul 20, 2021)
6-145805040-C-T		not specified	Uncertain significance (Jun 01, 2023)
6-145805045-A-G		not specified	Uncertain significance (Sep 20, 2023)
6-145805054-A-G		not specified	Uncertain significance (Mar 26, 2024)
6-145805109-A-N		not specified	Uncertain significance (Jan 18, 2024)
6-145805322-C-T		not specified	Uncertain significance (Mar 25, 2024)
6-145805346-T-C		not specified	Uncertain significance (Jan 04, 2024)
6-145805366-G-C		not specified	Uncertain significance (Apr 19, 2024)
6-145805375-C-A		not specified	Uncertain significance (Mar 20, 2023)
6-145805470-T-C			Likely benign (Nov 01, 2022)
6-145805484-T-C		not specified	Uncertain significance (Jan 05, 2022)
6-145805531-A-G		not specified	Uncertain significance (Jan 02, 2024)
6-145805621-T-C		not specified	Uncertain significance (Jun 17, 2024)
6-145805632-A-C		not specified	Uncertain significance (Jun 18, 2024)
6-145805647-A-C		not specified	Uncertain significance (Mar 29, 2022)
6-145805651-T-C		not specified	Uncertain significance (Dec 26, 2023)
6-145805792-C-T		not specified	Uncertain significance (Dec 20, 2023)
6-145805856-G-C		not specified	Uncertain significance (Dec 28, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP