FERMT3 FERM domain containing kindlin 3
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 24 |
Likely pathogenic | 0 | 10 |
Benign | 0 | 76 |
Likely benign | 0 | 452 |
Conflicting classifications of pathogenicity | 0 | 24 |
Uncertain significance | 0 | 412 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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108 |
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838 |
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14 |
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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Search word | : | |
Filtering | : |
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 | KIND3 |
SYNONYM | MIG-2 |
SYNONYM | MIG2B |
SYNONYM | UNC112C |
SYNONYM | URP2 |
SYNONYM | URP2SF |
MIM | 607901 OMIM |
HGNC | HGNC:23151 HGNC |
Ensembl | ENSG00000149781 Ensembl |
AllianceGenome | HGNC:23151 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000698852.1 | hg38 | chr11 | 64,205,926 | 64,223,833 | 17,908 |
ENST00000279227.10 | hg38 | chr11 | 64,206,670 | 64,223,891 | 17,222 |
ENST00000698868.1 | hg38 | chr11 | 64,206,742 | 64,223,882 | 17,141 |
ENST00000698869.1 | hg38 | chr11 | 64,206,744 | 64,223,822 | 17,079 |
ENST00000698863.1 | hg38 | chr11 | 64,206,716 | 64,223,896 | 17,181 |
ENST00000698865.1 | hg38 | chr11 | 64,206,723 | 64,223,875 | 17,153 |
ENST00000698860.1 | hg38 | chr11 | 64,206,670 | 64,223,890 | 17,221 |
ENST00000698861.1 | hg38 | chr11 | 64,206,689 | 64,223,886 | 17,198 |
ENST00000544997.6 | hg38 | chr11 | 64,206,632 | 64,223,896 | 17,265 |
ENST00000698878.1 | hg38 | chr11 | 64,206,716 | 64,223,831 | 17,116 |
ENST00000345728.10 | hg38 | chr11 | 64,206,721 | 64,223,891 | 17,171 |
ENST00000698874.1 | hg38 | chr11 | 64,207,976 | 64,223,891 | 15,916 |
ENST00000698870.1 | hg38 | chr11 | 64,206,759 | 64,223,756 | 16,998 |
ENST00000541252.2 | hg38 | chr11 | 64,207,772 | 64,223,890 | 16,119 |
ENST00000279227.10 | hg19 | chr11 | 63,974,142 | 63,991,363 | 17,222 |
ENST00000345728.10 | hg19 | chr11 | 63,974,193 | 63,991,363 | 17,171 |
ENST00000541252.2 | hg19 | chr11 | 63,975,244 | 63,991,362 | 16,119 |
ENST00000698852.1 | hg19 | chr11 | 63,973,398 | 63,991,305 | 17,908 |
ENST00000544997.6 | hg19 | chr11 | 63,974,104 | 63,991,368 | 17,265 |
ENST00000698860.1 | hg19 | chr11 | 63,974,142 | 63,991,362 | 17,221 |
ENST00000698865.1 | hg19 | chr11 | 63,974,195 | 63,991,347 | 17,153 |
ENST00000698861.1 | hg19 | chr11 | 63,974,161 | 63,991,358 | 17,198 |
ENST00000698878.1 | hg19 | chr11 | 63,974,188 | 63,991,303 | 17,116 |
ENST00000698863.1 | hg19 | chr11 | 63,974,188 | 63,991,368 | 17,181 |
ENST00000698868.1 | hg19 | chr11 | 63,974,214 | 63,991,354 | 17,141 |
ENST00000698869.1 | hg19 | chr11 | 63,974,216 | 63,991,294 | 17,079 |
ENST00000698870.1 | hg19 | chr11 | 63,974,231 | 63,991,228 | 16,998 |
ENST00000698874.1 | hg19 | chr11 | 63,975,448 | 63,991,363 | 15,916 |
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