PKP4-AS1

PKP4 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 2:158658337-158776987

Links

ENSG00000204380 ∙ NCBI:100129029 ∙ ∙ HGNC:52580 ∙ ∙ ∙ 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 PKP4-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PKP4-AS1 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			12	16		28
Total	0	0	12	16	0

Variants in PKP4-AS1

This is a list of pathogenic ClinVar variants found in the PKP4-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-158661195-T-G			Benign (May 14, 2021)
2-158661342-C-T		not specified	Likely benign (Mar 02, 2024)
2-158661345-C-T		not specified	Benign/Likely benign (May 17, 2022)
2-158661346-G-A		not specified	Uncertain significance (Mar 04, 2025)
2-158661350-G-C		not specified	Uncertain significance (Jul 20, 2024)
2-158661354-A-T		not specified	Uncertain significance (May 12, 2023)
2-158661362-G-A		not specified	Uncertain significance (Jun 23, 2024)
2-158661363-G-A		not specified	Likely benign (Mar 13, 2020)
2-158661367-C-A		not specified	Uncertain significance (Oct 17, 2022)
2-158661368-A-G		not specified	Uncertain significance (Apr 14, 2023)
2-158661373-C-T		not specified	Uncertain significance (Dec 14, 2024)
2-158661378-C-A		not specified	Likely benign (Mar 09, 2022)
2-158661381-C-T		not specified	Likely benign (Aug 29, 2022)
2-158661382-G-A		not specified	Uncertain significance (Nov 10, 2024)
2-158661387-G-T		not specified	Likely benign (Feb 23, 2023)
2-158661391-G-A		not specified	Uncertain significance (Mar 06, 2022)
2-158661396-C-G		not specified	Uncertain significance (Jan 16, 2025)
2-158661402-G-A		not specified	Likely benign (Oct 10, 2023)
2-158661408-T-C		not specified	Likely benign (Jun 21, 2020)
2-158661414-C-T		not specified	Benign/Likely benign (May 17, 2022)
2-158661419-C-T		not specified	Uncertain significance (Dec 05, 2024)
2-158661420-G-A		not specified	Likely benign (Dec 15, 2023)
2-158661425-T-A		not specified	Uncertain significance (Feb 08, 2025)
2-158661429-C-T		not specified	Likely benign (Mar 04, 2024)
2-158661435-C-T		not specified	Likely benign (Apr 19, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP