CFAP126 cilia and flagella associated protein 126
Information
- Symbol
- CFAP126
- Type
- protein-coding
- Description
- cilia and flagella associated protein 126
- Entrez Gene ID
- 257177
- Genome
- hg19
- Position
- chr1:161,334,523-161,337,666
- Genome
- hg38
- Position
- chr1:161,364,733-161,367,876
- MIM
- 616119 OMIM
- HGNC
- HGNC:32325 HGNC
- Ensembl
- ENSG00000188931 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 24 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
28 |
 |
0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| 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
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MGeND data only
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| 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
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| Category | : |
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| 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 | C1orf192 |
| SYNONYM | Flattop |
| SYNONYM | Fltp |
| MIM | 616119 OMIM |
| HGNC | HGNC:32325 HGNC |
| Ensembl | ENSG00000188931 Ensembl |
| AllianceGenome | HGNC:32325 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000367974.2 | hg38 | chr1 | 161,364,733 | 161,367,876 | 3,144 |
| ENST00000367974.2 | hg19 | chr1 | 161,334,523 | 161,337,666 | 3,144 |
| Key | Value |
|---|---|
| strand | - |
| start | 161,334,521 |
| Gene Symbol | CFAP126 |
| Entrez GeneId | 257,177 |
| Chr Band | 1q23.3 |
| end | 161,337,673 |
| chr | chr1 |
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