CFAP99

cilia and flagella associated protein 99, the group of Cilia and flagella associated

Basic information

Region (hg38): 4:2418973-2462942

Links

ENSG00000206113 ∙ NCBI:402160 ∙ ∙ HGNC:51180 ∙ Uniprot:D6REC4 ∙ AlphaFold ∙ 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 CFAP99 gene.

• Inborn genetic diseases (56 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CFAP99 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			56			56
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	56	0	0

Variants in CFAP99

This is a list of pathogenic ClinVar variants found in the CFAP99 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
4-2426497-A-G		not specified	Uncertain significance (Jun 10, 2024)
4-2426498-T-C		not specified	Uncertain significance (Apr 07, 2023)
4-2426517-A-C		not specified	Uncertain significance (Oct 25, 2023)
4-2426518-C-T		not specified	Uncertain significance (Dec 14, 2023)
4-2436910-G-T		not specified	Uncertain significance (Mar 24, 2023)
4-2436917-C-G		not specified	Uncertain significance (Dec 26, 2023)
4-2436934-C-T		not specified	Uncertain significance (Jan 26, 2023)
4-2436935-G-A		not specified	Uncertain significance (Apr 04, 2023)
4-2437010-G-A		not specified	Uncertain significance (May 16, 2023)
4-2437014-C-G		not specified	Uncertain significance (Mar 06, 2023)
4-2438092-C-A		not specified	Uncertain significance (Apr 28, 2022)
4-2438145-C-T		not specified	Uncertain significance (Apr 22, 2022)
4-2438147-G-A		not specified	Uncertain significance (Oct 03, 2023)
4-2443136-A-G		not specified	Uncertain significance (Feb 26, 2024)
4-2443186-G-C		not specified	Uncertain significance (May 17, 2023)
4-2443187-A-T		not specified	Uncertain significance (Oct 29, 2021)
4-2445160-A-T		not specified	Uncertain significance (May 26, 2024)
4-2445205-C-T		not specified	Uncertain significance (Jun 11, 2021)
4-2445291-G-A		not specified	Uncertain significance (Dec 22, 2023)
4-2445301-C-G		not specified	Uncertain significance (Nov 18, 2022)
4-2449685-T-C		not specified	Uncertain significance (May 20, 2024)
4-2449725-A-G		not specified	Uncertain significance (Jun 23, 2023)
4-2449736-C-T		not specified	Uncertain significance (Jul 14, 2021)
4-2449737-G-A		not specified	Uncertain significance (Aug 10, 2021)
4-2449748-G-A		not specified	Uncertain significance (Nov 15, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Mouse Genome Informatics

• Gene name: Cfap99

Gene ontology

• Cellular component: motile cilium