NECTIN1 nectin cell adhesion molecule 1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 2 | 10 |
| Likely pathogenic | 0 | 6 |
| Benign | 0 | 22 |
| Likely benign | 0 | 86 |
| Conflicting classifications of pathogenicity | 0 | 38 |
| Uncertain significance | 0 | 264 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
18 |
 |
358 |
 |
10 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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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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| 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 | CD111 |
| SYNONYM | CLPED1 |
| SYNONYM | ED4 |
| SYNONYM | HIgR |
| SYNONYM | HV1S |
| SYNONYM | HVEC |
| SYNONYM | OFC7 |
| SYNONYM | PRR |
| SYNONYM | PRR1 |
| SYNONYM | PVRL1 |
| SYNONYM | PVRR |
| SYNONYM | PVRR1 |
| SYNONYM | SK-12 |
| SYNONYM | nectin-1 |
| MIM | 600644 OMIM |
| HGNC | HGNC:9706 HGNC |
| Ensembl | ENSG00000110400 Ensembl |
| AllianceGenome | HGNC:9706 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000531468.2 | hg38 | chr11 | 119,623,408 | 119,728,553 | 105,146 |
| ENST00000264025.8 | hg38 | chr11 | 119,660,992 | 119,729,200 | 68,209 |
| ENST00000340882.2 | hg38 | chr11 | 119,674,592 | 119,728,553 | 53,962 |
| ENST00000531468.2 | hg19 | chr11 | 119,494,120 | 119,599,263 | 105,144 |
| ENST00000264025.8 | hg19 | chr11 | 119,531,702 | 119,599,910 | 68,209 |
| ENST00000340882.2 | hg19 | chr11 | 119,545,302 | 119,599,263 | 53,962 |
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