CFAP20DC-AS1

CFAP20DC antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 3:58824437-59019093

Previous symbols: [ "C3orf67-AS1" ]

Links

ENSG00000242428 ∙ NCBI:101929238 ∙ ∙ HGNC:41063 ∙ ∙ ∙ 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 CFAP20DC-AS1 gene.

• not provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CFAP20DC-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				3	2	5
Total	0	0	0	3	2

Variants in CFAP20DC-AS1

This is a list of pathogenic ClinVar variants found in the CFAP20DC-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
3-58863617-C-T			Likely benign (Dec 01, 2022)
3-58863767-C-G		not specified	Uncertain significance (Nov 12, 2021)
3-58866572-G-C			Benign/Likely benign (Apr 01, 2022)
3-58867813-A-C			Likely benign (Sep 01, 2023)
3-58867852-T-C		not specified	Uncertain significance (Jul 20, 2021)
3-58867915-T-G		not specified	Uncertain significance (Aug 03, 2021)
3-58869460-G-A		Tuberous sclerosis 2	Uncertain significance (Dec 17, 2024)
3-58869477-A-G		not specified	Uncertain significance (Jul 20, 2021)
3-58870226-G-A		not specified	Uncertain significance (Oct 27, 2021)
3-58870245-G-A			Benign (Jan 22, 2019)
3-58884595-C-T			Benign (Apr 16, 2018)
3-58884659-G-A		Primary ciliary dyskinesia	Uncertain significance (Jun 26, 2024)
3-58913851-C-A		not specified	Uncertain significance (Aug 13, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP