LIPE lipase E, hormone sensitive type
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 6 |
Likely pathogenic | 0 | 4 |
Benign | 0 | 62 |
Likely benign | 0 | 72 |
Conflicting classifications of pathogenicity | 0 | 8 |
not provided | 1 | 0 |
Uncertain significance | 0 | 176 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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42 |
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256 |
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8 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 |
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SYNONYM | AOMS4 |
SYNONYM | FPLD6 |
SYNONYM | HSL |
SYNONYM | LHS |
SYNONYM | REH |
MIM | 151750 OMIM |
HGNC | HGNC:6621 HGNC |
Ensembl | ENSG00000079435 Ensembl |
AllianceGenome | HGNC:6621 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000244289.9 | hg38 | chr19 | 42,401,514 | 42,427,388 | 25,875 |
ENST00000244289.9 | hg19 | chr19 | 42,905,666 | 42,931,540 | 25,875 |
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