CCDC54-AS1

CCDC54 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 3:107129887-107421356

Links

ENSG00000239828 ∙ NCBI:101929579 ∙ ∙ HGNC:56107 ∙ ∙ ∙ 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 CCDC54-AS1 gene.

• Inborn genetic diseases (17 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC54-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			17			17
Total	0	0	17	0	0

Variants in CCDC54-AS1

This is a list of pathogenic ClinVar variants found in the CCDC54-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
3-107377612-G-T		not specified	Uncertain significance (Dec 17, 2021)
3-107377645-A-G		not specified	Uncertain significance (Sep 17, 2021)
3-107377674-A-C		not specified	Uncertain significance (Apr 06, 2022)
3-107377699-C-T		not specified	Uncertain significance (Apr 22, 2022)
3-107377825-C-T		not specified	Uncertain significance (Oct 29, 2021)
3-107377856-T-G		not specified	Uncertain significance (Jun 09, 2022)
3-107377871-A-G		not specified	Uncertain significance (Jan 23, 2024)
3-107377921-A-C		not specified	Uncertain significance (May 27, 2022)
3-107377945-T-C		not specified	Uncertain significance (Sep 17, 2021)
3-107377982-A-C		not specified	Uncertain significance (Dec 12, 2023)
3-107378000-A-G		not specified	Uncertain significance (Jan 04, 2022)
3-107378039-C-T		not specified	Uncertain significance (Apr 19, 2024)
3-107378072-G-T		not specified	Uncertain significance (Aug 30, 2022)
3-107378095-C-T		not specified	Uncertain significance (Oct 27, 2022)
3-107378123-T-C		not specified	Uncertain significance (Sep 09, 2021)
3-107378254-C-T		not specified	Uncertain significance (Jul 12, 2023)
3-107378280-C-G		not specified	Uncertain significance (Jan 31, 2024)
3-107378290-G-A		not specified	Uncertain significance (Oct 13, 2021)
3-107378345-T-C		not specified	Uncertain significance (Jun 29, 2022)
3-107378503-A-T		not specified	Uncertain significance (Feb 06, 2024)
3-107378533-G-A		not specified	Uncertain significance (Jul 14, 2022)
3-107378537-T-G		not specified	Uncertain significance (Jun 23, 2023)
3-107378560-G-A		not specified	Uncertain significance (Jan 04, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP