GeneBe

CLRN1-AS1

CLRN1 antisense RNA 1, the group of Antisense RNAs

Basic information

Previous symbols: [ "CLRN1OS" ]

Links

ENSG00000239265 ∙ NCBI:116933 ∙ ∙ HGNC:30895 ∙ ∙ ∙ 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 CLRN1-AS1 gene.

  • not provided (254 variants)
  • Usher syndrome type 3 (103 variants)
  • Retinitis pigmentosa 61 (32 variants)
  • Usher syndrome type 3A (31 variants)
  • not specified (17 variants)
  • Inborn genetic diseases (10 variants)
  • Retinal dystrophy (10 variants)
  • Usher syndrome (7 variants)
  • Rare genetic deafness (7 variants)
  • Retinitis Pigmentosa, Dominant (6 variants)
  • Retinitis pigmentosa-deafness syndrome (6 variants)
  • Retinitis pigmentosa (5 variants)
  • Retinitis pigmentosa;Retinitis pigmentosa 61;Usher syndrome type 3A (4 variants)
  • Retinitis pigmentosa;Usher syndrome type 3A;Retinitis pigmentosa 61 (3 variants)
  • Hearing impairment (3 variants)
  • CLRN1-related condition (2 variants)
  • Usher syndrome type 3A;Retinitis pigmentosa;Retinitis pigmentosa 61 (1 variants)
  • Melnick-Fraser syndrome (1 variants)
  • Usher syndrome type 3A;Retinitis pigmentosa 61;Retinitis pigmentosa (1 variants)
  • Retinitis pigmentosa;Usher syndrome type 3A (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CLRN1-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
28
clinvar
46
clinvar
127
clinvar
116
clinvar
25
clinvar
 342
Total 28 46 127 116 25

Highest pathogenic variant AF is 0.000125

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP