PGLS-DT

PGLS divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 19:17488990-17511889

Links

ENSG00000269439 ∙ NCBI:100507551 ∙ ∙ HGNC:55274 ∙ ∙ ∙ 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 PGLS-DT gene.

• Inborn genetic diseases (19 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PGLS-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			18	1	3	22
Total	0	0	18	1	3

Variants in PGLS-DT

This is a list of pathogenic ClinVar variants found in the PGLS-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
19-17489002-C-A			Benign (Jun 11, 2018)
19-17489017-T-A		not specified	Uncertain significance (May 10, 2024)
19-17489088-T-C		not specified	Uncertain significance (Apr 27, 2022)
19-17489115-A-G		not specified	Uncertain significance (Mar 19, 2024)
19-17497258-G-A		not specified	Uncertain significance (May 27, 2022)
19-17497309-G-A		not specified	Uncertain significance (May 28, 2024)
19-17497313-C-T		not specified	Uncertain significance (Sep 20, 2023)
19-17497351-G-C		not specified	Uncertain significance (Nov 15, 2021)
19-17497393-G-C		not specified	Uncertain significance (Jan 17, 2024)
19-17500329-C-G		not specified	Uncertain significance (Jan 03, 2024)
19-17500383-C-T		not specified	Uncertain significance (Nov 17, 2023)
19-17500537-C-T		not specified	Uncertain significance (Oct 13, 2023)
19-17500543-G-A		not specified	Uncertain significance (Mar 31, 2024)
19-17500717-G-A		not specified	Uncertain significance (Apr 04, 2023)
19-17500772-C-T		not specified	Uncertain significance (Oct 05, 2021)
19-17500778-G-A		not specified	Uncertain significance (Jan 23, 2024)
19-17500787-G-A		not specified	Uncertain significance (Dec 21, 2022)
19-17500819-G-A		not specified	Uncertain significance (Oct 25, 2022)
19-17500837-G-A		not specified	Uncertain significance (Feb 03, 2022)
19-17500854-C-T			Benign (Dec 14, 2017)
19-17501302-G-A		not specified	Likely benign (Jan 10, 2022)
19-17501377-C-T		not specified	Uncertain significance (Dec 28, 2023)
19-17501378-G-A		not specified	Uncertain significance (Sep 06, 2022)
19-17504468-C-G		not specified	Uncertain significance (Apr 20, 2024)
19-17504476-C-T		not specified	Uncertain significance (Apr 18, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP