CACTIN-AS1

CACTIN antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 19:3606497-3613930

Previous symbols: [ "C19orf29OS", "C19orf29-AS1" ]

Links

ENSG00000226800 ∙ NCBI:404665 ∙ ∙ HGNC:31391 ∙ Uniprot:Q8N1I8 ∙ AlphaFold ∙ 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 CACTIN-AS1 gene.

• Inborn genetic diseases (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CACTIN-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			6	1		7
Total	0	0	6	1	0

Variants in CACTIN-AS1

This is a list of pathogenic ClinVar variants found in the CACTIN-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
19-3612003-G-A		not specified	Uncertain significance (Feb 10, 2022)
19-3612035-T-C		not specified	Uncertain significance (Dec 22, 2023)
19-3612067-G-C		not specified	Uncertain significance (Jul 12, 2023)
19-3612368-T-C		not specified	Uncertain significance (Jun 30, 2023)
19-3612369-T-G		not specified	Uncertain significance (Oct 05, 2022)
19-3613107-A-T		not specified	Uncertain significance (Dec 13, 2023)
19-3613294-A-G		not specified	Likely benign (Feb 02, 2022)
19-3613336-G-C		not specified	Uncertain significance (Mar 07, 2024)
19-3613479-T-A		not specified	Uncertain significance (Dec 06, 2021)
19-3613518-T-C		not specified	Uncertain significance (Sep 13, 2023)
19-3613531-C-G		not specified	Uncertain significance (Oct 14, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP