PLTP phospholipid transfer protein
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 24 |
Likely benign | 0 | 78 |
not provided | 1 | 0 |
Uncertain significance | 0 | 150 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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18 |
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234 |
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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
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 |
Search Word
Target data | : |
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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Search word | : | |
Filtering | : |
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 | BPIFE |
SYNONYM | HDLCQ9 |
MIM | 172425 OMIM |
HGNC | HGNC:9093 HGNC |
Ensembl | ENSG00000100979 Ensembl |
AllianceGenome | HGNC:9093 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000420868.2 | hg38 | chr20 | 45,898,806 | 45,912,155 | 13,350 |
ENST00000354050.8 | hg38 | chr20 | 45,898,621 | 45,912,152 | 13,532 |
ENST00000477313.5 | hg38 | chr20 | 45,898,763 | 45,912,047 | 13,285 |
ENST00000372431.8 | hg38 | chr20 | 45,898,622 | 45,912,155 | 13,534 |
ENST00000372420.5 | hg38 | chr20 | 45,898,760 | 45,910,937 | 12,178 |
ENST00000354050.8 | hg19 | chr20 | 44,527,260 | 44,540,791 | 13,532 |
ENST00000372431.8 | hg19 | chr20 | 44,527,261 | 44,540,794 | 13,534 |
ENST00000372420.5 | hg19 | chr20 | 44,527,399 | 44,539,576 | 12,178 |
ENST00000477313.5 | hg19 | chr20 | 44,527,402 | 44,540,686 | 13,285 |
ENST00000420868.2 | hg19 | chr20 | 44,527,445 | 44,540,794 | 13,350 |
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