PLCB3 phospholipase C beta 3
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Benign | 0 | 18 |
Likely benign | 0 | 18 |
Uncertain significance | 0 | 80 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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4 |
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110 |
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2 |
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
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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 |
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Target data | : |
MGeND data only
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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 | SMDCD |
MIM | 600230 OMIM |
HGNC | HGNC:9056 HGNC |
Ensembl | ENSG00000149782 Ensembl |
AllianceGenome | HGNC:9056 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000279230.12 | hg38 | chr11 | 64,251,530 | 64,267,923 | 16,394 |
ENST00000540288.5 | hg38 | chr11 | 64,251,547 | 64,269,150 | 17,604 |
ENST00000325234.5 | hg38 | chr11 | 64,251,575 | 64,267,923 | 16,349 |
ENST00000279230.12 | hg19 | chr11 | 64,019,002 | 64,035,395 | 16,394 |
ENST00000540288.5 | hg19 | chr11 | 64,019,019 | 64,036,622 | 17,604 |
ENST00000325234.5 | hg19 | chr11 | 64,019,047 | 64,035,395 | 16,349 |
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