PSMD14-DT

PSMD14 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 2:161222782-161308389

Links

ENSG00000235724 ∙ NCBI:101929512 ∙ ∙ HGNC:56104 ∙ ∙ ∙ 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 PSMD14-DT gene.

• Inborn genetic diseases (17 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PSMD14-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			17		4	21
Total	0	0	17	0	4

Variants in PSMD14-DT

This is a list of pathogenic ClinVar variants found in the PSMD14-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
2-161223924-C-G			Benign (Dec 01, 2022)
2-161230995-A-C		not specified	Uncertain significance (Apr 07, 2023)
2-161231017-A-T		not specified	Uncertain significance (Aug 11, 2022)
2-161231044-T-C			Benign (Mar 29, 2018)
2-161231061-G-C		not specified	Uncertain significance (Jun 24, 2022)
2-161231121-C-T		not specified	Uncertain significance (Jan 02, 2024)
2-161231150-G-T		not specified	Uncertain significance (Mar 06, 2023)
2-161231167-G-A		not specified	Uncertain significance (Aug 16, 2022)
2-161231178-C-T		not specified	Uncertain significance (Jul 29, 2022)
2-161231196-C-T		not specified	Uncertain significance (Nov 09, 2022)
2-161231268-T-C		not specified	Uncertain significance (Feb 06, 2023)
2-161231315-G-A		not specified	Uncertain significance (Jun 21, 2022)
2-161231332-C-A		not specified	Uncertain significance (May 11, 2022)
2-161231348-A-G		not specified	Uncertain significance (Sep 27, 2022)
2-161231356-C-G		not specified	Uncertain significance (Jun 22, 2021)
2-161231364-C-A		not specified	Uncertain significance (May 28, 2023)
2-161231370-A-G		not specified	Uncertain significance (Sep 17, 2021)
2-161231406-T-G		not specified	Uncertain significance (Jul 08, 2022)
2-161231430-C-T		not specified	Uncertain significance (Mar 02, 2023)
2-161231468-A-C		not specified	Uncertain significance (Nov 29, 2023)
2-161231523-C-T			Benign (May 21, 2018)
2-161231557-T-C			Benign (Jun 12, 2018)
2-161235378-T-C		not specified	Uncertain significance (Jun 22, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP