DNAJB5-DT

DNAJB5 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 9:34984914-34997055

Previous symbols: [ "DNAJB5-AS1" ]

Links

ENSG00000281491 ∙ NCBI:101926900 ∙ ∙ HGNC:49846 ∙ ∙ ∙ 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 DNAJB5-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJB5-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 DNAJB5-DT

This is a list of pathogenic ClinVar variants found in the DNAJB5-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
9-34989665-T-A			Uncertain significance (Aug 01, 2021)
9-34989686-G-A			Uncertain significance (Aug 01, 2020)
9-34989720-G-T			Uncertain significance (Oct 01, 2022)
9-34989730-G-T		not specified	Uncertain significance (Dec 06, 2024)
9-34989751-G-GGTGGA			Uncertain significance (Apr 01, 2019)
9-34989762-C-T		not specified	Uncertain significance (Aug 08, 2023)
9-34989775-G-A		not specified	Uncertain significance (Dec 31, 2024)
9-34989789-C-T		not specified	Uncertain significance (Apr 15, 2024)
9-34989804-C-G		not specified	Uncertain significance (Jan 16, 2025)
9-34989811-G-A		not specified	Uncertain significance (Mar 29, 2022)
9-34989817-C-T		not specified	Uncertain significance (Dec 19, 2023)
9-34989820-A-C		not specified	Uncertain significance (Dec 03, 2024)
9-34989837-G-A			Uncertain significance (Jan 01, 2024)
9-34990673-C-T		Skeletal myopathy;Peripheral neuropathy	Conflicting classifications of pathogenicity (Dec 01, 2019)
9-34990677-C-G		not specified	Uncertain significance (Aug 28, 2024)
9-34990700-C-T		not specified	Uncertain significance (May 26, 2024)
9-34990747-G-T		not specified	Uncertain significance (Oct 26, 2022)
9-34990777-T-G			Likely benign (May 01, 2024)
9-34993271-C-T		not specified	Uncertain significance (Dec 28, 2023)
9-34993433-A-G		not specified	Uncertain significance (Jun 07, 2023)
9-34993440-G-A			Uncertain significance (Sep 01, 2019)
9-34996275-CGGCGGT-C			Uncertain significance (Jun 01, 2022)
9-34996276-G-A			Likely benign (Jul 01, 2022)
9-34996285-A-T			Uncertain significance (Jun 01, 2022)
9-34996297-T-C		not specified	Uncertain significance (Oct 25, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP