PNISR-AS1

PNISR antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 6:99424847-99502354

Links

ENSG00000228506 ∙ NCBI:101927365 ∙ ∙ HGNC:40958 ∙ ∙ ∙ 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 PNISR-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PNISR-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						0
Total	0	0	0	0	0

Variants in PNISR-AS1

This is a list of pathogenic ClinVar variants found in the PNISR-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
6-99435724-C-T		not specified	Likely benign (Feb 11, 2022)
6-99435734-G-T		not specified	Uncertain significance (Aug 22, 2023)
6-99435781-C-A		not specified	Uncertain significance (Jan 29, 2024)
6-99435828-T-C		Leber congenital amaurosis 19	Benign (Dec 05, 2021)
6-99435837-G-A		not specified	Uncertain significance (Nov 13, 2024)
6-99435841-T-A		Retinal dystrophy	Uncertain significance (Jan 01, 2022)
6-99437248-G-A		not specified	Uncertain significance (Oct 06, 2024)
6-99437249-G-A		not specified	Uncertain significance (Aug 12, 2021)
6-99437249-G-C		not specified	Uncertain significance (Dec 03, 2024)
6-99437278-G-A		not specified	Likely benign (Oct 10, 2023)
6-99437312-A-G		not specified	Uncertain significance (Feb 28, 2023)
6-99437338-G-A		not specified • Laterality defects, autosomal dominant	Uncertain significance (Aug 21, 2024)
6-99437370-G-T		Retinal dystrophy	Uncertain significance (Jan 01, 2022)
6-99439801-C-T		not specified	Uncertain significance (Oct 21, 2021)
6-99439831-T-G		not specified	Uncertain significance (Nov 23, 2021)
6-99439839-C-A		not specified	Uncertain significance (Dec 20, 2023)
6-99439839-C-T		not specified	Uncertain significance (Nov 24, 2024)
6-99443564-C-A		Retinal dystrophy • Leber congenital amaurosis	Uncertain significance (Jul 10, 2020)
6-99443599-G-A		not specified • Retinal dystrophy	Uncertain significance (Jan 24, 2023)
6-99443620-A-G		not specified	Uncertain significance (Jun 26, 2024)
6-99443648-C-A		Short stature	Pathogenic (Nov 18, 2001)
6-99445808-G-C		not specified	Uncertain significance (May 05, 2023)
6-99445822-C-A		USP45-related disorder	Likely benign (May 31, 2022)
6-99445833-T-C		not specified	Uncertain significance (Aug 28, 2024)
6-99445839-T-A		not specified	Uncertain significance (Feb 01, 2025)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP