KCNK4-CATSPERZ

KCNK4-CATSPERZ readthrough (NMD candidate)

Basic information

Region (hg38): 11:64291722-64304769

Links

ENSG00000257069 ∙ NCBI:106780802 ∙ ∙ HGNC:56753 ∙ ∙ ∙ 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 KCNK4-CATSPERZ gene.

• not provided (2 variants)
• Abnormal facial shape;Generalized hypertrichosis;Intellectual disability;Gingival overgrowth;Seizure (1 variants)
• Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNK4-CATSPERZ 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)			1			1
splice region			12	13	3	28
non coding	3	3	227	140	17	390
Total	3	3	228	140	17

Variants in KCNK4-CATSPERZ

This is a list of pathogenic ClinVar variants found in the KCNK4-CATSPERZ region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
11-64293022-C-A			Uncertain significance (Aug 07, 2023)
11-64293023-G-A		not specified	Uncertain significance (Jul 01, 2024)
11-64293029-C-T			Likely benign (Oct 23, 2024)
11-64293031-A-G			Uncertain significance (Dec 17, 2024)
11-64293034-C-G			Likely benign (Oct 23, 2024)
11-64293041-C-T			Likely benign (Oct 23, 2024)
11-64293042-C-T		KCNK4-related disorder	Benign/Likely benign (Feb 03, 2025)
11-64293051-G-A			Likely benign (Jan 01, 2023)
11-64293054-G-T			Likely benign (Sep 25, 2024)
11-64293060-G-A			Likely benign (Dec 03, 2022)
11-64293072-G-A			Likely benign (Aug 23, 2023)
11-64293073-T-C			Uncertain significance (Sep 07, 2022)
11-64293073-T-G			Uncertain significance (May 25, 2022)
11-64293074-C-G			Uncertain significance (Sep 25, 2024)
11-64293081-C-T			Likely benign (Sep 19, 2023)
11-64293091-C-G			Uncertain significance (Aug 18, 2023)
11-64293092-G-A			Uncertain significance (Aug 17, 2021)
11-64293094-G-A			Likely benign (Jan 06, 2025)
11-64293095-C-T			Uncertain significance (Sep 21, 2021)
11-64293098-T-C			Uncertain significance (Oct 14, 2022)
11-64293105-G-A			Likely benign (Oct 22, 2024)
11-64293111-C-A		not specified	Conflicting classifications of pathogenicity (Jan 28, 2025)
11-64293113-A-G			Uncertain significance (Jul 25, 2023)
11-64293121-G-T			Likely benign (Oct 24, 2024)
11-64293122-C-T			Uncertain significance (Jul 28, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP