KPNB1-DT

KPNB1 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 17:47554973-47649632

Links

ENSG00000263766 ∙ NCBI:112268184 ∙ ∙ HGNC:55336 ∙ ∙ ∙ 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 KPNB1-DT gene.

• Inborn genetic diseases (6 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KPNB1-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			8		1	9
Total	0	0	8	0	1

Variants in KPNB1-DT

This is a list of pathogenic ClinVar variants found in the KPNB1-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
17-47582823-A-G		not specified	Uncertain significance (Nov 13, 2023)
17-47585524-C-T		not specified	Uncertain significance (Oct 06, 2021)
17-47585666-T-C		not specified	Uncertain significance (Aug 06, 2021)
17-47587239-A-G			Benign (Jun 27, 2018)
17-47587277-G-A		not specified	Uncertain significance (Apr 24, 2024)
17-47587320-A-G			Benign (Jul 13, 2018)
17-47587351-AATATTTTTAAGTGCTCAAAT-A			Likely benign (Dec 30, 2023)
17-47590709-G-C			Benign (Jul 13, 2018)
17-47590838-G-A		not specified	Uncertain significance (Dec 09, 2023)
17-47590876-A-G		not specified	Uncertain significance (Nov 27, 2023)
17-47592050-T-C		not specified	Uncertain significance (Aug 12, 2021)
17-47596446-A-G		not specified	Uncertain significance (Oct 12, 2021)
17-47599679-G-A		not specified	Uncertain significance (Dec 26, 2023)
17-47601671-C-G		not specified	Uncertain significance (Dec 15, 2022)
17-47601712-G-A		not specified	Uncertain significance (Aug 15, 2023)
17-47603942-C-T		not specified	Uncertain significance (Jul 14, 2021)
17-47603954-A-T		not specified	Uncertain significance (Mar 04, 2024)
17-47605462-A-G		not specified	Uncertain significance (Jan 31, 2024)
17-47612522-G-A			Uncertain significance (Aug 24, 2021)
17-47612543-C-T		not specified	Uncertain significance (May 25, 2022)
17-47613665-G-T			Benign (Jun 05, 2018)
17-47613673-A-T		not specified	Uncertain significance (Oct 12, 2021)
17-47618398-G-A		not specified	Uncertain significance (Feb 16, 2023)
17-47618407-G-A		not specified	Uncertain significance (May 09, 2022)
17-47621777-G-C			Uncertain significance (Aug 24, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP