FRMD8 FERM domain containing 8
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 10 |
Uncertain significance | 0 | 60 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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70 |
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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 | FKSG44 |
SYNONYM | iTAP |
MIM | 618337 OMIM |
HGNC | HGNC:25462 HGNC |
Ensembl | ENSG00000126391 Ensembl |
AllianceGenome | HGNC:25462 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000317568.10 | hg38 | chr11 | 65,386,637 | 65,413,525 | 26,889 |
ENST00000355991.9 | hg38 | chr11 | 65,386,637 | 65,413,522 | 26,886 |
ENST00000531296.1 | hg38 | chr11 | 65,386,621 | 65,387,261 | 641 |
ENST00000416776.6 | hg38 | chr11 | 65,386,657 | 65,411,780 | 25,124 |
ENST00000531296.1 | hg19 | chr11 | 65,154,092 | 65,154,732 | 641 |
ENST00000355991.9 | hg19 | chr11 | 65,154,108 | 65,180,993 | 26,886 |
ENST00000317568.10 | hg19 | chr11 | 65,154,108 | 65,180,996 | 26,889 |
ENST00000416776.6 | hg19 | chr11 | 65,154,128 | 65,179,251 | 25,124 |
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