VWCE von Willebrand factor C and EGF domains
Information
- Symbol
- VWCE
- Type
- protein-coding
- Description
- von Willebrand factor C and EGF domains
- Entrez Gene ID
- 220001
- Genome
- hg19
- Position
- chr11:61,025,758-61,062,788
- Genome
- hg38
- Position
- chr11:61,258,286-61,295,316
- MIM
- 611115 OMIM
- HGNC
- HGNC:26487 HGNC
- Ensembl
- ENSG00000167992 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Benign | 0 | 6 |
Likely benign | 0 | 12 |
Uncertain significance | 0 | 112 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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130 |
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2 |
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 |
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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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 | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | URG11 |
SYNONYM | VWC1 |
MIM | 611115 OMIM |
HGNC | HGNC:26487 HGNC |
Ensembl | ENSG00000167992 Ensembl |
AllianceGenome | HGNC:26487 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000535710.1 | hg38 | chr11 | 61,258,624 | 61,273,806 | 15,183 |
ENST00000335613.10 | hg38 | chr11 | 61,258,286 | 61,295,316 | 37,031 |
ENST00000335613.10 | hg19 | chr11 | 61,025,758 | 61,062,788 | 37,031 |
ENST00000535710.1 | hg19 | chr11 | 61,026,096 | 61,041,278 | 15,183 |
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