MANSC1 MANSC domain containing 1
Information
- Symbol
- MANSC1
- Type
- protein-coding
- Description
- MANSC domain containing 1
- Entrez Gene ID
- 54682
- Genome
- hg19
- Position
- chr12:12,478,990-12,503,176
- Genome
- hg38
- Position
- chr12:12,326,056-12,350,242
- HGNC
- HGNC:25505 HGNC
- Ensembl
- ENSG00000111261 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 12 |
| Uncertain significance | 0 | 70 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
84 |
 |
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
[No Data.]
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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| 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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| Category | : |
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| 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 | 9130403P13Rik |
| SYNONYM | LOH12CR3 |
| HGNC | HGNC:25505 HGNC |
| Ensembl | ENSG00000111261 Ensembl |
| AllianceGenome | HGNC:25505 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000396349.3 | hg38 | chr12 | 12,329,265 | 12,350,241 | 20,977 |
| ENST00000535902.6 | hg38 | chr12 | 12,326,056 | 12,350,242 | 24,187 |
| ENST00000545735.1 | hg38 | chr12 | 12,329,713 | 12,338,674 | 8,962 |
| ENST00000535902.6 | hg19 | chr12 | 12,478,990 | 12,503,176 | 24,187 |
| ENST00000396349.3 | hg19 | chr12 | 12,482,199 | 12,503,175 | 20,977 |
| ENST00000545735.1 | hg19 | chr12 | 12,482,647 | 12,491,608 | 8,962 |
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