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 (3 variants)
• Cone-rod dystrophy 16;Bardet-biedl syndrome 21;Retinitis pigmentosa (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	4	1	36	9	2	52
Total	4	1	36	9	2

Highest pathogenic variant AF is 0.00000657

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)
8-95245068-G-T		Retinitis pigmentosa • Cone-rod dystrophy 16	Uncertain significance (Jan 13, 2018)
8-95245092-A-G		Cone-rod dystrophy 16 • Retinitis pigmentosa	Benign (Jan 13, 2018)
8-95245119-T-C		Cone-rod dystrophy 16 • Retinitis pigmentosa	Uncertain significance (Jan 13, 2018)
8-95245125-G-A		Retinitis pigmentosa • Cone-rod dystrophy 16	Uncertain significance (Apr 27, 2017)
8-95245198-A-T		Retinitis pigmentosa • Cone-rod dystrophy 16	Benign/Likely benign (Jan 13, 2018)
8-95245287-G-A		Cone-rod dystrophy 16 • Retinitis pigmentosa	Conflicting classifications of pathogenicity (Jan 13, 2018)
8-95245405-G-A		Cone-rod dystrophy 16 • Retinitis pigmentosa	Conflicting classifications of pathogenicity (Jan 12, 2018)
8-95245405-G-C		Cone-rod dystrophy 16 • Retinitis pigmentosa	Uncertain significance (Jan 12, 2018)
8-95245451-A-C		Cone-rod dystrophy 16 • Retinitis pigmentosa	Conflicting classifications of pathogenicity (Jan 12, 2018)
8-95245454-A-G		Cone-rod dystrophy 16 • Retinitis pigmentosa	Benign (Jan 12, 2018)
8-95245488-T-C		Cone-rod dystrophy 16 • Retinitis pigmentosa	Uncertain significance (Jan 13, 2018)
8-95245515-C-T		Cone-rod dystrophy 16 • Retinitis pigmentosa	Uncertain significance (Jan 13, 2018)
8-95245523-G-A		Retinitis pigmentosa • Cone-rod dystrophy 16	Benign/Likely benign (Apr 27, 2017)
8-95245600-G-C		Retinitis pigmentosa • Cone-rod dystrophy 16	Uncertain significance (Jan 13, 2018)
8-95245608-G-A		Cone-rod dystrophy 16 • Retinitis pigmentosa	Uncertain significance (Jan 13, 2018)
8-95245668-G-C		Cone-rod dystrophy 16 • Retinitis pigmentosa	Benign/Likely benign (Jan 13, 2018)
8-95245713-C-T		Retinitis pigmentosa • Cone-rod dystrophy 16	Uncertain significance (Jan 12, 2018)
8-95245747-A-T		Cone-rod dystrophy 16 • Retinitis pigmentosa	Uncertain significance (Jan 12, 2018)
8-95245806-T-C		Retinitis pigmentosa • Cone-rod dystrophy 16	Benign/Likely benign (Jan 12, 2018)
8-95245930-A-T		Retinitis pigmentosa • Cone-rod dystrophy 16	Uncertain significance (Jan 13, 2018)
8-95245942-C-A		Cone-rod dystrophy 16 • Retinitis pigmentosa	Uncertain significance (Jan 13, 2018)
8-95245950-A-G		Cone-rod dystrophy 16 • Retinitis pigmentosa	Benign/Likely benign (Jan 13, 2018)
8-95245988-A-C		Cone-rod dystrophy 16 • Retinitis pigmentosa	Uncertain significance (Jan 13, 2018)
8-95245989-T-A		Cone-rod dystrophy 16 • Retinitis pigmentosa	Uncertain significance (Jan 13, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP