PDGFD platelet derived growth factor D
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 8 |
Likely benign | 0 | 6 |
not provided | 1 | 0 |
Uncertain significance | 0 | 102 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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114 |
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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
Locus Zoom
Variants
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Target data | : |
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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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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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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 | IEGF |
SYNONYM | MSTP036 |
SYNONYM | SCDGF-B |
SYNONYM | SCDGFB |
MIM | 609673 OMIM |
HGNC | HGNC:30620 HGNC |
Ensembl | ENSG00000170962 Ensembl |
AllianceGenome | HGNC:30620 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000393158.7 | hg38 | chr11 | 103,907,189 | 104,164,147 | 256,959 |
ENST00000302251.9 | hg38 | chr11 | 103,907,189 | 104,164,379 | 257,191 |
ENST00000393158.7 | hg19 | chr11 | 103,777,917 | 104,034,875 | 256,959 |
ENST00000302251.9 | hg19 | chr11 | 103,777,917 | 104,035,107 | 257,191 |
Key | Value |
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strand | - |
UniProt | OG |
start | 103,777,913 |
Gene Symbol | PDGFD |
Entrez GeneId | 80,310 |
Chr Band | 11q22.3 |
end | 104,035,026 |
chr | chr11 |
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