SCARB1 scavenger receptor class B member 1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 2 |
| Benign | 0 | 86 |
| Likely benign | 0 | 114 |
| association | 0 | 4 |
| Conflicting classifications of pathogenicity | 0 | 4 |
| Uncertain significance | 0 | 92 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
38 |
 |
242 |
 |
4 |
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
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | CD36L1 |
| SYNONYM | CLA-1 |
| SYNONYM | CLA1 |
| SYNONYM | HDLCQ6 |
| SYNONYM | HDLQTL6 |
| SYNONYM | SR-BI |
| SYNONYM | SRB1 |
| MIM | 601040 OMIM |
| HGNC | HGNC:1664 HGNC |
| Ensembl | ENSG00000073060 Ensembl |
| AllianceGenome | HGNC:1664 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000546215.5 | hg38 | chr12 | 124,778,499 | 124,863,783 | 85,285 |
| ENST00000544327.1 | hg38 | chr12 | 124,785,820 | 124,817,707 | 31,888 |
| ENST00000680556.1 | hg38 | chr12 | 124,777,212 | 124,863,921 | 86,710 |
| ENST00000415380.6 | hg38 | chr12 | 124,777,633 | 124,863,846 | 86,214 |
| ENST00000261693.11 | hg38 | chr12 | 124,776,856 | 124,863,864 | 87,009 |
| ENST00000339570.9 | hg38 | chr12 | 124,776,856 | 124,863,917 | 87,062 |
| ENST00000680596.1 | hg38 | chr12 | 124,777,212 | 124,863,865 | 86,654 |
| ENST00000261693.11 | hg19 | chr12 | 125,261,402 | 125,348,410 | 87,009 |
| ENST00000339570.9 | hg19 | chr12 | 125,261,402 | 125,348,463 | 87,062 |
| ENST00000415380.6 | hg19 | chr12 | 125,262,179 | 125,348,392 | 86,214 |
| ENST00000544327.1 | hg19 | chr12 | 125,270,366 | 125,302,253 | 31,888 |
| ENST00000546215.5 | hg19 | chr12 | 125,263,045 | 125,348,329 | 85,285 |
| ENST00000680556.1 | hg19 | chr12 | 125,261,758 | 125,348,467 | 86,710 |
| ENST00000680596.1 | hg19 | chr12 | 125,261,758 | 125,348,411 | 86,654 |
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