CNPY2-AS1

CNPY2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 12:56300039-56317992

Links

ENSG00000257303 ∙ NCBI:112268098 ∙ ∙ HGNC:55480 ∙ ∙ ∙ 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 CNPY2-AS1 gene.

• Inborn genetic diseases (5 variants)
• not provided (1 variants)
• Abnormality of the face;Craniosynostosis syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CNPY2-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		1	5	1		7
Total	0	1	5	1	0

Variants in CNPY2-AS1

This is a list of pathogenic ClinVar variants found in the CNPY2-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
12-56300180-C-A		not specified	Uncertain significance (Jan 03, 2024)
12-56300197-G-C		not specified	Uncertain significance (Mar 16, 2022)
12-56310572-T-C		not specified	Uncertain significance (Jan 04, 2024)
12-56310581-C-T		not specified	Uncertain significance (Aug 28, 2023)
12-56310990-T-C		not specified	Uncertain significance (Mar 04, 2024)
12-56311244-G-A			Likely benign (Nov 01, 2022)
12-56311299-C-T		not specified	Uncertain significance (Jan 19, 2024)
12-56314861-G-A		not specified	Uncertain significance (Nov 18, 2022)
12-56314903-A-G		not specified	Uncertain significance (May 14, 2024)
12-56315167-GGTTCC-G		Abnormality of the face;Craniosynostosis syndrome	Likely pathogenic (Aug 01, 2021)
12-56315168-G-C		not specified	Uncertain significance (Dec 27, 2023)
12-56317640-G-A		not specified	Uncertain significance (Sep 01, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP