CCDC61 coiled-coil domain containing 61
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 2 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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2 |
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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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
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 | |||
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | VFL3 |
SYNONYM | hVFL3 |
MIM | 620676 OMIM |
HGNC | HGNC:33629 HGNC |
Ensembl | ENSG00000104983 Ensembl |
AllianceGenome | HGNC:33629 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000594087.1 | hg38 | chr19 | 46,003,006 | 46,018,392 | 15,387 |
ENST00000536603.5 | hg38 | chr19 | 45,995,461 | 46,018,615 | 23,155 |
ENST00000595358.5 | hg38 | chr19 | 45,995,467 | 46,018,616 | 23,150 |
ENST00000536603.5 | hg19 | chr19 | 46,498,719 | 46,521,873 | 23,155 |
ENST00000595358.5 | hg19 | chr19 | 46,498,725 | 46,521,874 | 23,150 |
ENST00000594087.1 | hg19 | chr19 | 46,506,264 | 46,521,650 | 15,387 |
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