NUP133-DT

NUP133 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 1:229508077-229514401

Links

ENSG00000223635 ∙ NCBI:101927478 ∙ ∙ HGNC:55870 ∙ ∙ ∙ 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 NUP133-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NUP133-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 NUP133-DT

This is a list of pathogenic ClinVar variants found in the NUP133-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
1-229508080-G-C		not specified	Uncertain significance (Jun 09, 2022)
1-229508084-T-C		not specified	Uncertain significance (Feb 12, 2025)
1-229508092-C-T		not specified	Uncertain significance (Aug 27, 2024)
1-229508116-G-T		not specified	Uncertain significance (Dec 30, 2023)
1-229508117-A-C		not specified	Uncertain significance (Dec 30, 2023)
1-229508124-T-C			Likely benign (Jun 20, 2022)
1-229508125-G-A		not specified	Uncertain significance (Oct 25, 2024)
1-229508126-C-T		not specified	Uncertain significance (Feb 28, 2024)
1-229508148-C-A			Uncertain significance (Mar 25, 2023)
1-229508163-G-A		NUP133-related disorder	Benign (Jul 06, 2024)
1-229508170-G-C		not specified	Uncertain significance (Dec 13, 2024)
1-229508173-C-T		not specified	Uncertain significance (Mar 04, 2024)
1-229508176-G-C			Uncertain significance (Jul 19, 2024)
1-229508180-C-G			Uncertain significance (Mar 12, 2022)
1-229508181-G-A		NUP133-related disorder	Likely benign (May 01, 2019)
1-229508189-C-T		not specified	Uncertain significance (Dec 21, 2024)
1-229508230-G-A			Uncertain significance (Jun 03, 2024)
1-229508234-G-A			Uncertain significance (Aug 08, 2024)
1-229508237-C-T		not specified	Uncertain significance (Apr 06, 2023)
1-229508259-G-A		NUP133-related disorder	Likely benign (Jul 21, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP