FGD3 FYVE, RhoGEF and PH domain containing 3
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 8 |
Uncertain significance | 0 | 86 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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98 |
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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 |
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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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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 |
---|---|
SYNONYM | ZFYVE5 |
MIM | 617554 OMIM |
HGNC | HGNC:16027 HGNC |
Ensembl | ENSG00000127084 Ensembl |
AllianceGenome | HGNC:16027 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000468206.6 | hg38 | chr9 | 92,964,325 | 93,036,222 | 71,898 |
ENST00000337352.10 | hg38 | chr9 | 92,974,482 | 93,036,232 | 61,751 |
ENST00000416701.6 | hg38 | chr9 | 92,963,961 | 93,036,236 | 72,276 |
ENST00000375482.8 | hg38 | chr9 | 92,947,523 | 93,036,233 | 88,711 |
ENST00000375482.8 | hg19 | chr9 | 95,709,805 | 95,798,515 | 88,711 |
ENST00000416701.6 | hg19 | chr9 | 95,726,243 | 95,798,518 | 72,276 |
ENST00000468206.6 | hg19 | chr9 | 95,726,607 | 95,798,504 | 71,898 |
ENST00000337352.10 | hg19 | chr9 | 95,736,764 | 95,798,514 | 61,751 |
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