CCHCR1 coiled-coil alpha-helical rod protein 1
Information
- Symbol
- CCHCR1
- Type
- protein-coding
- Description
- coiled-coil alpha-helical rod protein 1
- Entrez Gene ID
- 54535
- Genome
- hg19
- Position
- chr6:31,110,216-31,125,579
- Genome
- hg38
- Position
- chr6:31,142,439-31,157,802
- MIM
- 605310 OMIM
- HGNC
- HGNC:13930 HGNC
- Ensembl
- ENSG00000204536 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 8 |
| Likely benign | 0 | 10 |
| not provided | 44 | 0 |
| Uncertain significance | 0 | 70 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
88 |
 |
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
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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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
| Target data | : |
MGeND data only
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| 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 | : |
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| 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 | C6orf18 |
| SYNONYM | HCR |
| SYNONYM | SBP |
| SYNONYM | pg8 |
| MIM | 605310 OMIM |
| HGNC | HGNC:13930 HGNC |
| Ensembl | ENSG00000204536 Ensembl |
| AllianceGenome | HGNC:13930 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000451521.6 | hg38 | chr6 | 31,142,520 | 31,157,607 | 15,088 |
| ENST00000396268.8 | hg38 | chr6 | 31,142,439 | 31,157,802 | 15,364 |
| ENST00000396263.6 | hg38 | chr6 | 31,142,444 | 31,158,201 | 15,758 |
| ENST00000376266.9 | hg38 | chr6 | 31,142,439 | 31,158,238 | 15,800 |
| ENST00000376266.9 | hg19 | chr6 | 31,110,216 | 31,126,015 | 15,800 |
| ENST00000396263.6 | hg19 | chr6 | 31,110,221 | 31,125,978 | 15,758 |
| ENST00000396268.8 | hg19 | chr6 | 31,110,216 | 31,125,579 | 15,364 |
| ENST00000451521.6 | hg19 | chr6 | 31,110,297 | 31,125,384 | 15,088 |
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