POC1B-AS1

POC1B antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 12:89524545-89594878

Links

ENSG00000270344 ∙ ∙ ∙ HGNC:52949 ∙ ∙ ∙ 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 POC1B-AS1 gene.

• not provided (36 variants)
• Cone-rod dystrophy 20 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the POC1B-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		2	18	15	2	37
Total	0	2	18	15	2

Variants in POC1B-AS1

This is a list of pathogenic ClinVar variants found in the POC1B-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
12-89525072-C-T			Likely benign (Feb 02, 2019)
12-89525109-A-G			Likely benign (Feb 24, 2024)
12-89525110-T-TC			Likely benign (Mar 11, 2024)
12-89525111-A-G			Likely benign (Apr 09, 2024)
12-89525113-G-C			Likely benign (Mar 21, 2024)
12-89525127-C-A			Uncertain significance (Aug 09, 2022)
12-89525131-C-T			Uncertain significance (Oct 04, 2022)
12-89525132-C-T		Cone-rod dystrophy 20	Uncertain significance (Mar 28, 2024)
12-89525133-G-C			Uncertain significance (Aug 23, 2022)
12-89525144-G-C		Cone-rod dystrophy 20	Uncertain significance (Jun 17, 2024)
12-89525145-G-T			Uncertain significance (Oct 13, 2022)
12-89525157-G-A		POC1B-related disorder	Likely benign (Apr 29, 2020)
12-89525158-A-G			Uncertain significance (Dec 09, 2021)
12-89525167-T-C			Uncertain significance (Nov 27, 2023)
12-89525168-T-A		Cone-rod dystrophy 20	Likely pathogenic (Jul 28, 2022)
12-89525168-T-C			Uncertain significance (Dec 04, 2023)
12-89525170-T-C			Uncertain significance (Jun 05, 2022)
12-89525171-G-A			Uncertain significance (Jun 18, 2022)
12-89525173-C-A		Cone-rod dystrophy 20	Uncertain significance (Jun 07, 2024)
12-89525174-C-T		Cone-rod dystrophy 20	Uncertain significance (Mar 20, 2024)
12-89525182-TA-T			Pathogenic (May 01, 2023)
12-89525186-G-C			Uncertain significance (Sep 06, 2022)
12-89525196-G-A			Likely benign (Nov 06, 2023)
12-89525203-T-G			Uncertain significance (Sep 17, 2021)
12-89525204-C-A			Pathogenic (Dec 25, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP