CACNA1G-AS1

CACNA1G antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 17:50556200-50562398

Links

ENSG00000250107 ∙ NCBI:253962 ∙ ∙ HGNC:27377 ∙ ∙ ∙ 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 CACNA1G-AS1 gene.

• not provided (16 variants)
• Inborn genetic diseases (2 variants)
• CACNA1G-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CACNA1G-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			8	5	5	18
Total	0	0	8	5	5

Variants in CACNA1G-AS1

This is a list of pathogenic ClinVar variants found in the CACNA1G-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
17-50560854-G-A			Benign (Mar 28, 2021)
17-50561465-CGAG-C			Uncertain significance (Jan 18, 2023)
17-50561472-G-C			Uncertain significance (Apr 26, 2023)
17-50561486-C-G			Uncertain significance (Dec 15, 2023)
17-50561508-C-G		Inborn genetic diseases	Uncertain significance (Jun 02, 2024)
17-50561518-T-C			Uncertain significance (Apr 25, 2022)
17-50561527-A-C		Inborn genetic diseases	Uncertain significance (Aug 15, 2023)
17-50561529-G-A			Uncertain significance (Mar 31, 2022)
17-50561531-C-G			Likely benign (Aug 17, 2023)
17-50561532-C-T			Likely benign (Sep 13, 2023)
17-50561536-C-G			Uncertain significance (May 01, 2023)
17-50561537-G-A			Benign/Likely benign (Jul 01, 2024)
17-50561545-G-A		Inborn genetic diseases	Uncertain significance (Feb 05, 2024)
17-50561548-G-A			Uncertain significance (Nov 24, 2022)
17-50561562-G-A		CACNA1G-related disorder	Uncertain significance (Mar 19, 2024)
17-50561582-G-C			Likely benign (Sep 01, 2021)
17-50561582-G-T			Likely benign (Dec 07, 2023)
17-50561584-GC-G		Inborn genetic diseases	Uncertain significance (Apr 28, 2021)
17-50561605-A-T		CACNA1G-related disorder	Uncertain significance (Jun 06, 2023)
17-50561614-C-G			Uncertain significance (May 17, 2024)
17-50561615-G-A			Likely benign (Nov 01, 2023)
17-50561623-C-T		Inborn genetic diseases	Conflicting classifications of pathogenicity (Feb 28, 2024)
17-50561624-G-A			Likely benign (Dec 11, 2023)
17-50561651-G-A			Likely benign (Sep 05, 2023)
17-50561674-G-A			Uncertain significance (Jul 27, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP