GeneBe

CPLANE1-AS1

CPLANE1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 5:37248903-37254845

Links

ENSG00000286193 ∙ NCBI:105374727 ∙ ∙ HGNC:56117 ∙ ∙ ∙ 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 CPLANE1-AS1 gene.

  • Joubert syndrome 17 (3 variants)
  • Familial aplasia of the vermis (1 variants)
  • not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CPLANE1-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
3
clinvar
2
clinvar
 5
Total 0 0 3 2 0

Variants in CPLANE1-AS1

This is a list of pathogenic ClinVar variants found in the CPLANE1-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
5-37249235-G-T not specified Likely benign (Jul 03, 2017)510602
5-37249274-G-A Joubert syndrome 17 Uncertain significance (Jan 13, 2018)904704
5-37249348-G-A Joubert syndrome 17 Uncertain significance (Jan 13, 2018)353470
5-37249431-C-G Familial aplasia of the vermis Likely benign (Jun 14, 2016)369472
5-37249431-C-T Joubert syndrome 17 Uncertain significance (Jan 13, 2018)905488

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP