BCAM basal cell adhesion molecule (Lutheran blood group)
Information
- Symbol
- BCAM
- Type
- protein-coding
- Description
- basal cell adhesion molecule (Lutheran blood group)
- Entrez Gene ID
- 4059
- Genome
- hg19
- Position
- chr19:45,312,360-45,324,678
- Genome
- hg38
- Position
- chr19:44,809,103-44,821,421
- MIM
- 612773 OMIM
- HGNC
- HGNC:6722 HGNC
- Ensembl
- ENSG00000187244 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 6 |
| Benign | 0 | 22 |
| Likely benign | 0 | 34 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 76 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
6 |
 |
120 |
 |
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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| Category | : |
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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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| Search word | : | |
| 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 | AU |
| SYNONYM | B-CAM |
| SYNONYM | CD239 |
| SYNONYM | F8/G253 |
| SYNONYM | LU |
| SYNONYM | MSK19 |
| MIM | 612773 OMIM |
| HGNC | HGNC:6722 HGNC |
| Ensembl | ENSG00000187244 Ensembl |
| AllianceGenome | HGNC:6722 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000611077.5 | hg38 | chr19 | 44,809,071 | 44,821,416 | 12,346 |
| ENST00000270233.12 | hg38 | chr19 | 44,809,103 | 44,821,421 | 12,319 |
| ENST00000611077.5 | hg19 | chr19 | 45,312,328 | 45,324,673 | 12,346 |
| ENST00000270233.12 | hg19 | chr19 | 45,312,360 | 45,324,678 | 12,319 |
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