CTNS-AS1

CTNS antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 17:3655621-3658092

Links

ENSG00000262903 ∙ NCBI:105371492 ∙ ∙ HGNC:56090 ∙ ∙ ∙ 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 CTNS-AS1 gene.

• Ocular cystinosis;Juvenile nephropathic cystinosis;Inborn genetic diseases (73 variants)
• Nephropathic cystinosis (49 variants)
• Inborn genetic diseases;Ocular cystinosis;Juvenile nephropathic cystinosis (46 variants)
• Cystinosis (28 variants)
• not provided (21 variants)
• Ocular cystinosis (13 variants)
• Ocular cystinosis;Juvenile nephropathic cystinosis;Nephropathic cystinosis (13 variants)
• Nephropathic cystinosis;Ocular cystinosis;Juvenile nephropathic cystinosis (10 variants)
• not specified (9 variants)
• Inborn genetic diseases (8 variants)
• Ocular cystinosis;Nephropathic cystinosis;Juvenile nephropathic cystinosis (3 variants)
• Juvenile nephropathic cystinosis;Inborn genetic diseases;Ocular cystinosis (2 variants)
• Juvenile nephropathic cystinosis;Ocular cystinosis;Inborn genetic diseases (1 variants)
• Infantile nephropathic cystinosis (1 variants)
• See cases (1 variants)
• Juvenile nephropathic cystinosis (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CTNS-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	16	27	31	82	6	162
Total	16	27	31	82	6

Highest pathogenic variant AF is 0.0000395

Variants in CTNS-AS1

This is a list of pathogenic ClinVar variants found in the CTNS-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
17-3655669-C-A			Benign (Dec 31, 2018)
17-3656389-CTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCT-C		Ocular cystinosis;Juvenile nephropathic cystinosis;Inborn genetic diseases	Likely benign (Aug 13, 2023)
17-3656425-CTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCT-C		Ocular cystinosis;Juvenile nephropathic cystinosis;Inborn genetic diseases	Likely benign (Aug 03, 2023)
17-3656449-TCACCCCCTGCCCTGTCTTGTCCCTC-T		Nephropathic cystinosis	Uncertain significance (Apr 03, 2018)
17-3656470-C-T		Ocular cystinosis;Juvenile nephropathic cystinosis;Inborn genetic diseases	Likely benign (Jan 25, 2024)
17-3656475-C-T		Ocular cystinosis;Juvenile nephropathic cystinosis;Inborn genetic diseases	Likely benign (Oct 23, 2023)
17-3656477-C-A		Ocular cystinosis;Juvenile nephropathic cystinosis;Inborn genetic diseases	Likely benign (Oct 17, 2023)
17-3656477-C-T		Juvenile nephropathic cystinosis • Ocular cystinosis;Inborn genetic diseases;Juvenile nephropathic cystinosis	Likely benign (Nov 24, 2023)
17-3656478-C-T		Ocular cystinosis;Inborn genetic diseases;Juvenile nephropathic cystinosis	Likely benign (Oct 17, 2023)
17-3656479-C-A		Ocular cystinosis;Inborn genetic diseases;Juvenile nephropathic cystinosis	Likely benign (May 08, 2023)
17-3656480-C-A		Ocular cystinosis • not specified • Nephropathic cystinosis • Cystinosis • Ocular cystinosis;Juvenile nephropathic cystinosis;Inborn genetic diseases • CTNS-related disorder	Benign/Likely benign (Jan 31, 2024)
17-3656481-C-T		Inborn genetic diseases;Ocular cystinosis;Juvenile nephropathic cystinosis	Likely benign (Feb 14, 2023)
17-3656485-A-C		Nephropathic cystinosis	Pathogenic (Jul 14, 2024)
17-3656486-G-A		Nephropathic cystinosis	Likely pathogenic (Feb 27, 2024)
17-3656487-T-C		not specified • Ocular cystinosis • Nephropathic cystinosis • Ocular cystinosis;Juvenile nephropathic cystinosis;Inborn genetic diseases • Cystinosis	Benign (Jan 31, 2024)
17-3656490-C-T		Inborn genetic diseases;Ocular cystinosis;Juvenile nephropathic cystinosis	Likely benign (Apr 29, 2022)
17-3656498-T-C		Nephropathic cystinosis • Cystinosis • Nephropathic cystinosis;Ocular cystinosis;Juvenile nephropathic cystinosis • Inborn genetic diseases;Ocular cystinosis;Juvenile nephropathic cystinosis • CTNS-related disorder	Pathogenic/Likely pathogenic (Mar 21, 2024)
17-3656499-G-A		Ocular cystinosis;Inborn genetic diseases;Juvenile nephropathic cystinosis	Likely benign (Sep 27, 2023)
17-3656502-C-T		Juvenile nephropathic cystinosis;Ocular cystinosis;Inborn genetic diseases	Likely benign (Jan 23, 2020)
17-3656502-CT-C		Nephropathic cystinosis	Pathogenic (Jun 28, 2019)
17-3656505-C-T		not specified • Nephropathic cystinosis • Ocular cystinosis • Cystinosis • Ocular cystinosis;Juvenile nephropathic cystinosis;Inborn genetic diseases	Conflicting classifications of pathogenicity (Jan 31, 2024)
17-3656506-G-A		Nephropathic cystinosis • Ocular cystinosis	Uncertain significance (Jun 18, 2021)
17-3656510-TC-T		Nephropathic cystinosis	Likely pathogenic (Feb 26, 2024)
17-3656511-C-T		Ocular cystinosis;Juvenile nephropathic cystinosis;Inborn genetic diseases	Likely benign (Oct 09, 2023)
17-3656512-G-A		Ocular cystinosis;Juvenile nephropathic cystinosis;Inborn genetic diseases	Likely benign (Dec 26, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP