PTOV1-AS2

PTOV1 antisense RNA 2, the group of Antisense RNAs

Basic information

Region (hg38): 19:49856970-49859289

Links

ENSG00000269352 ∙ NCBI:101928378 ∙ ∙ HGNC:51284 ∙ ∙ ∙ 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 PTOV1-AS2 gene.

• Inborn genetic diseases (10 variants)
• Long QT syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PTOV1-AS2 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	2		11
Total	0	0	9	2	0

Variants in PTOV1-AS2

This is a list of pathogenic ClinVar variants found in the PTOV1-AS2 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-49857000-T-C		not specified	Uncertain significance (Mar 24, 2023)
19-49857003-C-T		not specified	Uncertain significance (Apr 27, 2023)
19-49857018-G-A		not specified	Uncertain significance (Mar 20, 2023)
19-49857051-A-T		Long QT syndrome	Likely benign (-)
19-49857065-C-G		not specified	Uncertain significance (Sep 19, 2023)
19-49857101-A-G		not specified	Uncertain significance (Sep 14, 2022)
19-49857709-G-A		not specified	Uncertain significance (Jun 13, 2024)
19-49857726-G-C		not specified	Uncertain significance (Mar 04, 2024)
19-49857743-C-G		not specified	Uncertain significance (Feb 22, 2023)
19-49857917-C-T		not specified	Uncertain significance (Aug 04, 2023)
19-49857926-G-A		not specified	Uncertain significance (Jan 04, 2024)
19-49857952-G-A		not specified	Likely benign (Dec 01, 2022)
19-49858069-G-T		not specified	Uncertain significance (Dec 21, 2022)
19-49858580-G-A		not specified	Uncertain significance (Apr 26, 2024)
19-49858601-C-T		not specified	Uncertain significance (May 17, 2023)
19-49858610-T-C		not specified	Uncertain significance (Apr 22, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP