LAMC2 laminin subunit gamma 2
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 202 |
| Likely pathogenic | 0 | 224 |
| Benign | 0 | 186 |
| Likely benign | 0 | 1,326 |
| Conflicting classifications of pathogenicity | 0 | 80 |
| Uncertain significance | 0 | 316 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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156 |
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2,036 |
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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
[No Data.]
Locus Zoom
Variants
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| 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 | |||||||||||
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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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | B2T |
| SYNONYM | BM600 |
| SYNONYM | CSF |
| SYNONYM | EBR2 |
| SYNONYM | EBR2A |
| SYNONYM | JEB3A |
| SYNONYM | JEB3B |
| SYNONYM | LAMB2T |
| SYNONYM | LAMNB2 |
| MIM | 150292 OMIM |
| HGNC | HGNC:6493 HGNC |
| Ensembl | ENSG00000058085 Ensembl |
| AllianceGenome | HGNC:6493 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000493293.5 | hg38 | chr1 | 183,186,238 | 183,241,261 | 55,024 |
| ENST00000264144.5 | hg38 | chr1 | 183,186,264 | 183,245,127 | 58,864 |
| ENST00000493293.5 | hg19 | chr1 | 183,155,373 | 183,210,396 | 55,024 |
| ENST00000264144.5 | hg19 | chr1 | 183,155,399 | 183,214,262 | 58,864 |
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