PANK2-AS1

PANK2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 20:3862613-3889202

Links

ENSG00000229539 ∙ NCBI:107985395 ∙ ∙ HGNC:40732 ∙ ∙ ∙ 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 PANK2-AS1 gene.

• Pigmentary pallidal degeneration (16 variants)
• not provided (9 variants)
• not specified (1 variants)
• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PANK2-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			9	12		21
Total	0	0	9	12	0

Variants in PANK2-AS1

This is a list of pathogenic ClinVar variants found in the PANK2-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
20-3864283-G-A		not specified	Uncertain significance (Jul 12, 2022)
20-3864319-T-C		not specified	Uncertain significance (Jun 09, 2022)
20-3864379-C-T		not specified	Uncertain significance (Jan 24, 2023)
20-3864403-C-T		not specified	Uncertain significance (Jan 23, 2024)
20-3864522-G-A		not specified	Uncertain significance (Nov 07, 2022)
20-3864652-T-C		not specified	Uncertain significance (Dec 26, 2023)
20-3864697-C-G		not specified	Uncertain significance (Feb 24, 2022)
20-3864707-G-A			Likely benign (Mar 02, 2018)
20-3864757-C-T		not specified	Uncertain significance (May 20, 2024)
20-3865713-G-A			not provided (-)
20-3865761-G-A			Benign (Apr 06, 2018)
20-3865790-C-T			Likely benign (Dec 01, 2022)
20-3865791-G-A		not specified	Likely benign (Jun 06, 2023)
20-3865816-C-T		not specified	Uncertain significance (Dec 30, 2023)
20-3865822-C-T		not specified	Uncertain significance (Sep 30, 2021)
20-3865825-G-T		not specified	Uncertain significance (Dec 03, 2021)
20-3865828-G-C		not specified	Uncertain significance (Feb 05, 2024)
20-3865876-C-T		not specified	Uncertain significance (Jun 10, 2024)
20-3865933-T-C		not specified	Uncertain significance (Dec 21, 2023)
20-3865952-C-G		not specified	Uncertain significance (Jun 28, 2023)
20-3865997-C-T			Likely benign (May 17, 2018)
20-3866015-C-T			Benign (Feb 20, 2018)
20-3866081-G-C		not specified	Uncertain significance (May 17, 2023)
20-3866092-C-T		not specified	Uncertain significance (Jul 19, 2023)
20-3866106-G-C		not specified	Uncertain significance (Dec 14, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP