CD40LG CD40 ligand
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 28 | 132 |
| Likely pathogenic | 0 | 58 |
| Benign | 0 | 66 |
| Likely benign | 0 | 140 |
| Conflicting classifications of pathogenicity | 0 | 18 |
| no classification for the single variant | 0 | 4 |
| not provided | 6 | 0 |
| Uncertain significance | 0 | 108 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
44 |
 |
434 |
 |
12 |
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
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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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| 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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| 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 | CD154 |
| SYNONYM | CD40L |
| SYNONYM | HIGM1 |
| SYNONYM | IGM |
| SYNONYM | IMD3 |
| SYNONYM | T-BAM |
| SYNONYM | TNFSF5 |
| SYNONYM | TRAP |
| SYNONYM | gp39 |
| SYNONYM | hCD40L |
| MIM | 300386 OMIM |
| HGNC | HGNC:11935 HGNC |
| Ensembl | ENSG00000102245 Ensembl |
| AllianceGenome | HGNC:11935 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000370628.2 | hg38 | chrX | 136,648,227 | 136,660,390 | 12,164 |
| ENST00000370629.7 | hg38 | chrX | 136,648,158 | 136,660,390 | 12,233 |
| ENST00000695725.1 | hg38 | chrX | 136,648,177 | 136,660,282 | 12,106 |
| ENST00000695724.1 | hg38 | chrX | 136,648,164 | 136,660,388 | 12,225 |
| ENST00000370629.7 | hg19 | chrX | 135,730,317 | 135,742,549 | 12,233 |
| ENST00000695724.1 | hg19 | chrX | 135,730,323 | 135,742,547 | 12,225 |
| ENST00000695725.1 | hg19 | chrX | 135,730,336 | 135,742,441 | 12,106 |
| ENST00000370628.2 | hg19 | chrX | 135,730,386 | 135,742,549 | 12,164 |
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