HCFC1R1 host cell factor C1 regulator 1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 18 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
18 |
 |
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
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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 | |||||||||||
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| Target data | : |
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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| 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 | HPIP |
| MIM | 618818 OMIM |
| HGNC | HGNC:21198 HGNC |
| Ensembl | ENSG00000103145 Ensembl |
| AllianceGenome | HGNC:21198 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000572355.5 | hg38 | chr16 | 3,022,629 | 3,024,234 | 1,606 |
| ENST00000574151.5 | hg38 | chr16 | 3,022,625 | 3,023,961 | 1,337 |
| ENST00000354679.3 | hg38 | chr16 | 3,022,841 | 3,024,273 | 1,433 |
| ENST00000248089.8 | hg38 | chr16 | 3,022,625 | 3,023,942 | 1,318 |
| ENST00000574980.5 | hg38 | chr16 | 3,022,676 | 3,024,261 | 1,586 |
| ENST00000248089.8 | hg19 | chr16 | 3,072,626 | 3,073,943 | 1,318 |
| ENST00000574151.5 | hg19 | chr16 | 3,072,626 | 3,073,962 | 1,337 |
| ENST00000572355.5 | hg19 | chr16 | 3,072,630 | 3,074,235 | 1,606 |
| ENST00000574980.5 | hg19 | chr16 | 3,072,677 | 3,074,262 | 1,586 |
| ENST00000354679.3 | hg19 | chr16 | 3,072,842 | 3,074,274 | 1,433 |
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