NSMCE3 NSE3 homolog, SMC5-SMC6 complex component
Information
- Symbol
- NSMCE3
- Type
- protein-coding
- Description
- NSE3 homolog, SMC5-SMC6 complex component
- Entrez Gene ID
- 56160
- Genome
- hg19
- Position
- chr15:29,557,193-29,562,026
- Genome
- hg38
- Position
- chr15:29,264,989-29,269,822
- MIM
- 608243 OMIM
- HGNC
- HGNC:7677 HGNC
- Ensembl
- ENSG00000185115 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 4 |
| Benign | 0 | 12 |
| Likely benign | 0 | 194 |
| Conflicting classifications of pathogenicity | 0 | 4 |
| not provided | 2 | 0 |
| Uncertain significance | 0 | 146 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
20 |
 |
336 |
 |
0 |
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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| Category | : |
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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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| Category | : |
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| Search word | : | |
| 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
|
| Category | : |
|
| Search word | : | |
| 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 | HCA4 |
| SYNONYM | LICS |
| SYNONYM | MAGEG1 |
| SYNONYM | MAGEL3 |
| SYNONYM | NDNL2 |
| SYNONYM | NSE3 |
| MIM | 608243 OMIM |
| HGNC | HGNC:7677 HGNC |
| Ensembl | ENSG00000185115 Ensembl |
| AllianceGenome | HGNC:7677 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000332303.6 | hg38 | chr15 | 29,264,989 | 29,269,822 | 4,834 |
| ENST00000332303.6 | hg19 | chr15 | 29,557,193 | 29,562,026 | 4,834 |
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