L1CAM L1 cell adhesion molecule
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 8 | 208 |
| Likely pathogenic | 1 | 134 |
| Benign | 0 | 516 |
| Likely benign | 0 | 1,106 |
| Conflicting classifications of pathogenicity | 0 | 160 |
| not provided | 7 | 0 |
| other | 1 | 0 |
| Uncertain significance | 1 | 450 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
284 |
 |
1,962 |
 |
30 |
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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| 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 | CAML1 |
| SYNONYM | CD171 |
| SYNONYM | HSAS |
| SYNONYM | HSAS1 |
| SYNONYM | HYCX |
| SYNONYM | MASA |
| SYNONYM | MIC5 |
| SYNONYM | N-CAM-L1 |
| SYNONYM | N-CAML1 |
| SYNONYM | NCAM-L1 |
| SYNONYM | S10 |
| SYNONYM | SPG1 |
| MIM | 308840 OMIM |
| HGNC | HGNC:6470 HGNC |
| Ensembl | ENSG00000198910 Ensembl |
| AllianceGenome | HGNC:6470 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000361981.7 | hg38 | chrX | 153,861,514 | 153,875,944 | 14,431 |
| ENST00000370055.5 | hg38 | chrX | 153,861,953 | 153,886,154 | 24,202 |
| ENST00000361699.8 | hg38 | chrX | 153,862,548 | 153,875,847 | 13,300 |
| ENST00000370060.7 | hg38 | chrX | 153,861,516 | 153,886,173 | 24,658 |
| ENST00000361981.7 | hg19 | chrX | 153,126,969 | 153,141,399 | 14,431 |
| ENST00000370060.7 | hg19 | chrX | 153,126,971 | 153,151,627 | 24,657 |
| ENST00000370055.5 | hg19 | chrX | 153,127,408 | 153,151,608 | 24,201 |
| ENST00000361699.8 | hg19 | chrX | 153,128,003 | 153,141,302 | 13,300 |
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