C2CD5-AS1

C2CD5 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 12:22409237-22618873

Links

ENSG00000250166 ∙ NCBI:105369692 ∙ ∙ HGNC:55961 ∙ ∙ ∙ 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 C2CD5-AS1 gene.

• Inborn genetic diseases (36 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C2CD5-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			36			36
Total	0	0	36	0	0

Variants in C2CD5-AS1

This is a list of pathogenic ClinVar variants found in the C2CD5-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
12-22449771-C-T		not specified	Uncertain significance (May 05, 2023)
12-22454009-T-C		not specified	Uncertain significance (Aug 16, 2021)
12-22457063-T-C		not specified	Uncertain significance (Feb 22, 2024)
12-22457069-T-C		not specified	Uncertain significance (May 02, 2023)
12-22457075-C-T		not specified	Uncertain significance (May 27, 2022)
12-22457110-C-T		not specified	Uncertain significance (Nov 09, 2022)
12-22457117-G-A		not specified	Uncertain significance (Apr 07, 2022)
12-22457134-A-G		not specified	Uncertain significance (Apr 11, 2023)
12-22457135-C-G		not specified	Uncertain significance (Sep 01, 2021)
12-22469730-G-C		not specified	Uncertain significance (Feb 27, 2023)
12-22469792-G-A		not specified	Uncertain significance (Jan 05, 2022)
12-22470832-A-C		not specified	Uncertain significance (Feb 21, 2024)
12-22470874-T-G		not specified	Uncertain significance (Mar 29, 2023)
12-22471430-G-T		not specified	Uncertain significance (May 16, 2022)
12-22472004-T-C		not specified	Uncertain significance (Dec 20, 2023)
12-22472010-G-C		not specified	Uncertain significance (Feb 10, 2022)
12-22472315-C-T		not specified	Uncertain significance (Jul 26, 2022)
12-22474820-T-G		not specified	Uncertain significance (Mar 30, 2024)
12-22474842-C-T		not specified	Uncertain significance (May 27, 2022)
12-22474869-C-A		not specified	Uncertain significance (Nov 01, 2022)
12-22474884-G-A		not specified	Uncertain significance (Jan 23, 2023)
12-22478320-T-C		not specified	Uncertain significance (Nov 18, 2022)
12-22478427-C-G		not specified	Uncertain significance (Aug 15, 2023)
12-22478456-C-T		not specified	Uncertain significance (Jun 11, 2021)
12-22482694-T-C		not specified	Uncertain significance (Mar 20, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP