CTNS-AS1

CTNS antisense RNA 1, the group of Antisense RNAs

Basic information

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 ? Intron variants in splice region, excluding donor/acceptor (+/-2bp)						0
non coding ? UTR, intron and other, non coding variants	16 clinvar	27 clinvar	31 clinvar	82 clinvar	6 clinvar	162
Total	16	27	31	82	6

Highest pathogenic variant AF is 0.0000395

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP