LRP8 LDL receptor related protein 8
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 18 |
Likely benign | 0 | 30 |
Conflicting classifications of pathogenicity | 0 | 2 |
risk factor | 0 | 2 |
Uncertain significance | 0 | 84 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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4 |
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128 |
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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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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 | APOER2 |
SYNONYM | HSZ75190 |
SYNONYM | LRP-8 |
SYNONYM | MCI1 |
MIM | 602600 OMIM |
HGNC | HGNC:6700 HGNC |
Ensembl | ENSG00000157193 Ensembl |
AllianceGenome | HGNC:6700 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000662198.1 | hg38 | chr1 | 53,245,546 | 53,328,469 | 82,924 |
ENST00000667377.1 | hg38 | chr1 | 53,245,545 | 53,328,057 | 82,513 |
ENST00000658277.1 | hg38 | chr1 | 53,245,545 | 53,328,028 | 82,484 |
ENST00000657895.1 | hg38 | chr1 | 53,245,546 | 53,328,030 | 82,485 |
ENST00000668448.1 | hg38 | chr1 | 53,245,545 | 53,328,096 | 82,552 |
ENST00000659993.1 | hg38 | chr1 | 53,251,676 | 53,328,024 | 76,349 |
ENST00000306052.12 | hg38 | chr1 | 53,242,364 | 53,328,070 | 85,707 |
ENST00000347547.7 | hg38 | chr1 | 53,247,018 | 53,327,922 | 80,905 |
ENST00000371454.6 | hg38 | chr1 | 53,246,553 | 53,328,054 | 81,502 |
ENST00000662604.1 | hg38 | chr1 | 53,246,558 | 53,328,035 | 81,478 |
ENST00000354412.7 | hg38 | chr1 | 53,246,568 | 53,327,912 | 81,345 |
ENST00000306052.12 | hg19 | chr1 | 53,708,036 | 53,793,742 | 85,707 |
ENST00000354412.7 | hg19 | chr1 | 53,712,240 | 53,793,584 | 81,345 |
ENST00000347547.7 | hg19 | chr1 | 53,712,690 | 53,793,594 | 80,905 |
ENST00000659993.1 | hg19 | chr1 | 53,717,348 | 53,793,696 | 76,349 |
ENST00000658277.1 | hg19 | chr1 | 53,711,217 | 53,793,700 | 82,484 |
ENST00000667377.1 | hg19 | chr1 | 53,711,217 | 53,793,729 | 82,513 |
ENST00000668448.1 | hg19 | chr1 | 53,711,217 | 53,793,768 | 82,552 |
ENST00000657895.1 | hg19 | chr1 | 53,711,218 | 53,793,702 | 82,485 |
ENST00000662198.1 | hg19 | chr1 | 53,711,218 | 53,794,141 | 82,924 |
ENST00000662604.1 | hg19 | chr1 | 53,712,230 | 53,793,707 | 81,478 |
ENST00000371454.6 | hg19 | chr1 | 53,712,225 | 53,793,726 | 81,502 |
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