CFAP410 cilia and flagella associated protein 410
Information
- Symbol
- CFAP410
- Type
- protein-coding
- Description
- cilia and flagella associated protein 410
- Entrez Gene ID
- 755
- Genome
- hg19
- Position
- chr21:45,749,774-45,759,276
- Genome
- hg38
- Position
- chr21:44,329,891-44,339,393
- MIM
- 603191 OMIM
- HGNC
- HGNC:1260 HGNC
- Ensembl
- ENSG00000160226 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 6 | 62 |
| Likely pathogenic | 1 | 20 |
| Benign | 0 | 74 |
| Likely benign | 0 | 290 |
| Conflicting classifications of pathogenicity | 0 | 14 |
| not provided | 1 | 0 |
| other | 1 | 0 |
| Uncertain significance | 0 | 332 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
104 |
 |
644 |
 |
10 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | C21orf2 |
| SYNONYM | LRRC76 |
| SYNONYM | RDMS |
| SYNONYM | SMDAX |
| SYNONYM | YF5/A2 |
| MIM | 603191 OMIM |
| HGNC | HGNC:1260 HGNC |
| Ensembl | ENSG00000160226 Ensembl |
| AllianceGenome | HGNC:1260 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000325223.7 | hg38 | chr21 | 44,329,891 | 44,339,402 | 9,512 |
| ENST00000397956.7 | hg38 | chr21 | 44,329,891 | 44,339,393 | 9,503 |
| ENST00000339818.9 | hg38 | chr21 | 44,328,944 | 44,339,390 | 10,447 |
| ENST00000339818.9 | hg19 | chr21 | 45,748,827 | 45,759,273 | 10,447 |
| ENST00000397956.7 | hg19 | chr21 | 45,749,774 | 45,759,276 | 9,503 |
| ENST00000325223.7 | hg19 | chr21 | 45,749,774 | 45,759,285 | 9,512 |
Genome browser