MS4A1 membrane spanning 4-domains A1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 2 |
| Benign | 21 | 20 |
| Likely benign | 0 | 90 |
| Uncertain significance | 0 | 190 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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24 |
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272 |
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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
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 | Bp35 |
| SYNONYM | B1 |
| SYNONYM | CD20 |
| SYNONYM | CVID5 |
| SYNONYM | FMC7 |
| SYNONYM | LEU-16 |
| SYNONYM | S7 |
| MIM | 112210 OMIM |
| HGNC | HGNC:7315 HGNC |
| Ensembl | ENSG00000156738 Ensembl |
| AllianceGenome | HGNC:7315 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000345732.9 | hg38 | chr11 | 60,455,847 | 60,470,752 | 14,906 |
| ENST00000674194.1 | hg38 | chr11 | 60,455,905 | 60,470,016 | 14,112 |
| ENST00000528313.1 | hg38 | chr11 | 60,455,851 | 60,468,892 | 13,042 |
| ENST00000532073.5 | hg38 | chr11 | 60,455,847 | 60,470,058 | 14,212 |
| ENST00000389939.2 | hg38 | chr11 | 60,462,181 | 60,470,752 | 8,572 |
| ENST00000534668.6 | hg38 | chr11 | 60,455,847 | 60,470,752 | 14,906 |
| ENST00000532073.5 | hg19 | chr11 | 60,223,320 | 60,237,531 | 14,212 |
| ENST00000345732.9 | hg19 | chr11 | 60,223,320 | 60,238,225 | 14,906 |
| ENST00000534668.6 | hg19 | chr11 | 60,223,320 | 60,238,225 | 14,906 |
| ENST00000528313.1 | hg19 | chr11 | 60,223,324 | 60,236,365 | 13,042 |
| ENST00000674194.1 | hg19 | chr11 | 60,223,378 | 60,237,489 | 14,112 |
| ENST00000389939.2 | hg19 | chr11 | 60,229,654 | 60,238,225 | 8,572 |
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