CFAP418-AS1

CFAP418 antisense RNA 1, the group of Antisense RNAs

Basic information

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 ? Intron variants in splice region, excluding donor/acceptor (+/-2bp)						0
non coding ? UTR, intron and other, non coding variants	16 clinvar	6 clinvar	119 clinvar	59 clinvar	9 clinvar	209
Total	16	6	119	59	9

Highest pathogenic variant AF is 0.00000658

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP