CFAP184
Basic information
Region (hg38): 4:7040849-7043001
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CFAP184 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 | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 |
Variants in CFAP184
This is a list of pathogenic ClinVar variants found in the CFAP184 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 4-7041315-C-T | not specified | Uncertain significance (Aug 17, 2022) | ||
| 4-7041342-C-T | not specified | Uncertain significance (Feb 27, 2024) | ||
| 4-7041409-G-C | not specified | Uncertain significance (Mar 01, 2023) | ||
| 4-7041414-G-A | not specified | Uncertain significance (Aug 11, 2022) | ||
| 4-7041432-C-T | not specified | Uncertain significance (Nov 09, 2021) | ||
| 4-7041470-G-A | not specified | Uncertain significance (Sep 21, 2023) | ||
| 4-7041495-T-G | not specified | Uncertain significance (Feb 15, 2023) | ||
| 4-7041509-A-T | not specified | Uncertain significance (Nov 18, 2022) | ||
| 4-7041602-A-C | not specified | Uncertain significance (Mar 25, 2024) | ||
| 4-7041641-C-T | not specified | Uncertain significance (Jan 31, 2022) | ||
| 4-7041719-T-C | not specified | Uncertain significance (Mar 01, 2023) | ||
| 4-7041812-C-A | not specified | Uncertain significance (Sep 01, 2021) | ||
| 4-7041819-C-G | not specified | Uncertain significance (Sep 19, 2022) | ||
| 4-7041827-T-A | not specified | Uncertain significance (Jan 03, 2024) | ||
| 4-7041843-C-T | not specified | Uncertain significance (May 20, 2024) | ||
| 4-7041893-C-G | not specified | Uncertain significance (Jul 19, 2023) | ||
| 4-7041913-C-T | not specified | Uncertain significance (Aug 17, 2022) | ||
| 4-7042116-C-A | not specified | Uncertain significance (Feb 15, 2023) | ||
| 4-7042128-G-A | not specified | Uncertain significance (Jan 31, 2022) | ||
| 4-7042137-C-G | not specified | Uncertain significance (Sep 17, 2021) | ||
| 4-7042155-C-T | not specified | Uncertain significance (Feb 16, 2023) | ||
| 4-7042257-G-A | not specified | Uncertain significance (Oct 13, 2023) | ||
| 4-7042297-C-G | not specified | Uncertain significance (Jun 21, 2022) | ||
| 4-7042347-C-T | not specified | Uncertain significance (Feb 15, 2023) | ||
| 4-7042385-C-T | not specified | Uncertain significance (Jun 12, 2023) |
GnomAD
Source:
dbNSFP
Source: