GeneBe

CFAP418-AS1

CFAP418 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 8:95204456-95811254

Previous symbols: [ "C8orf37-AS1" ]

Links

ENSG00000253773 ∙ NCBI:100616530 ∙ ∙ HGNC:50444 ∙ ∙ ∙ 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 CFAP418-AS1 gene.

  • not provided (146 variants)
  • Cone-rod dystrophy 16 (63 variants)
  • Retinitis pigmentosa (59 variants)
  • Bardet-biedl syndrome 21;Retinitis pigmentosa;Cone-rod dystrophy 16 (14 variants)
  • CFAP418-related condition (7 variants)
  • Bardet-biedl syndrome 21 (5 variants)
  • not specified (4 variants)
  • Retinitis pigmentosa 64 (4 variants)
  • Retinitis pigmentosa;Bardet-biedl syndrome 21;Cone-rod dystrophy 16 (2 variants)
  • Retinitis Pigmentosa, Recessive (2 variants)
  • Retinitis pigmentosa;Cone-rod dystrophy 16;Bardet-biedl syndrome 21 (2 variants)
  • C8orf37-Related Disorders (2 variants)
  • Bardet-biedl syndrome 21;Cone-rod dystrophy 16;Retinitis pigmentosa (2 variants)
  • Cone-Rod Dystrophy, Recessive (2 variants)
  • Autosomal recessive retinitis pigmentosa (1 variants)
  • Cone-rod dystrophy 16;Bardet-biedl syndrome 21;Retinitis pigmentosa (1 variants)
  • Retinal dystrophy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CFAP418-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
clinvar
6
clinvar
119
clinvar
59
clinvar
9
clinvar
 209
Total 16 6 119 59 9

Highest pathogenic variant AF is 0.00000658

Variants in CFAP418-AS1

This is a list of pathogenic ClinVar variants found in the CFAP418-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
8-95245000-C-A Retinitis pigmentosa • Cone-rod dystrophy 16 Uncertain significance (Jan 13, 2018)363979
8-95245068-G-T Retinitis pigmentosa • Cone-rod dystrophy 16 Uncertain significance (Jan 13, 2018)363980
8-95245092-A-G Cone-rod dystrophy 16 • Retinitis pigmentosa Benign (Jan 13, 2018)363981
8-95245119-T-C Cone-rod dystrophy 16 • Retinitis pigmentosa Uncertain significance (Jan 13, 2018)915068
8-95245125-G-A Retinitis pigmentosa • Cone-rod dystrophy 16 Uncertain significance (Apr 27, 2017)915069
8-95245198-A-T Retinitis pigmentosa • Cone-rod dystrophy 16 Benign/Likely benign (Jan 13, 2018)363982
8-95245287-G-A Cone-rod dystrophy 16 • Retinitis pigmentosa Conflicting classifications of pathogenicity (Jan 13, 2018)363983
8-95245405-G-A Cone-rod dystrophy 16 • Retinitis pigmentosa Conflicting classifications of pathogenicity (Jan 12, 2018)912347
8-95245405-G-C Cone-rod dystrophy 16 • Retinitis pigmentosa Uncertain significance (Jan 12, 2018)912348
8-95245451-A-C Cone-rod dystrophy 16 • Retinitis pigmentosa Conflicting classifications of pathogenicity (Jan 12, 2018)912349
8-95245454-A-G Cone-rod dystrophy 16 • Retinitis pigmentosa Benign (Jan 12, 2018)363984
8-95245488-T-C Cone-rod dystrophy 16 • Retinitis pigmentosa Uncertain significance (Jan 13, 2018)913481
8-95245515-C-T Cone-rod dystrophy 16 • Retinitis pigmentosa Uncertain significance (Jan 13, 2018)363985
8-95245523-G-A Retinitis pigmentosa • Cone-rod dystrophy 16 Benign/Likely benign (Apr 27, 2017)913482
8-95245600-G-C Retinitis pigmentosa • Cone-rod dystrophy 16 Uncertain significance (Jan 13, 2018)363986
8-95245608-G-A Cone-rod dystrophy 16 • Retinitis pigmentosa Uncertain significance (Jan 13, 2018)913860
8-95245668-G-C Cone-rod dystrophy 16 • Retinitis pigmentosa Benign/Likely benign (Jan 13, 2018)363987
8-95245713-C-T Retinitis pigmentosa • Cone-rod dystrophy 16 Uncertain significance (Jan 12, 2018)913861
8-95245747-A-T Cone-rod dystrophy 16 • Retinitis pigmentosa Uncertain significance (Jan 12, 2018)363988
8-95245806-T-C Retinitis pigmentosa • Cone-rod dystrophy 16 Benign/Likely benign (Jan 12, 2018)915106
8-95245930-A-T Retinitis pigmentosa • Cone-rod dystrophy 16 Uncertain significance (Jan 13, 2018)363989
8-95245942-C-A Cone-rod dystrophy 16 • Retinitis pigmentosa Uncertain significance (Jan 13, 2018)363990
8-95245950-A-G Cone-rod dystrophy 16 • Retinitis pigmentosa Benign/Likely benign (Jan 13, 2018)912405
8-95245988-A-C Cone-rod dystrophy 16 • Retinitis pigmentosa Uncertain significance (Jan 13, 2018)363991
8-95245989-T-A Cone-rod dystrophy 16 • Retinitis pigmentosa Uncertain significance (Jan 13, 2018)912406

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP