PLS3 plastin 3
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 38 |
Likely pathogenic | 0 | 26 |
Benign | 0 | 120 |
Likely benign | 0 | 135 |
association | 0 | 4 |
Conflicting classifications of pathogenicity | 0 | 4 |
not provided | 6 | 0 |
Uncertain significance | 0 | 112 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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44 |
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365 |
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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 |
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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 | BMND18 |
SYNONYM | DIH5 |
SYNONYM | T-plastin |
MIM | 300131 OMIM |
HGNC | HGNC:9091 HGNC |
Ensembl | ENSG00000102024 Ensembl |
AllianceGenome | HGNC:9091 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000355899.8 | hg38 | chrX | 115,561,174 | 115,650,861 | 89,688 |
ENST00000289290.7 | hg38 | chrX | 115,561,228 | 115,649,758 | 88,531 |
ENST00000626746.2 | hg38 | chrX | 115,561,182 | 115,614,208 | 53,027 |
ENST00000539310.5 | hg38 | chrX | 115,593,608 | 115,650,672 | 57,065 |
ENST00000355899.8 | hg19 | chrX | 114,795,501 | 114,885,181 | 89,681 |
ENST00000626746.2 | hg19 | chrX | 114,795,509 | 114,848,520 | 53,012 |
ENST00000289290.7 | hg19 | chrX | 114,795,555 | 114,884,078 | 88,524 |
ENST00000539310.5 | hg19 | chrX | 114,827,920 | 114,884,992 | 57,073 |
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