NR2C1 nuclear receptor subfamily 2 group C member 1
Information
- Symbol
- NR2C1
- Type
- protein-coding
- Description
- nuclear receptor subfamily 2 group C member 1
- Entrez Gene ID
- 7181
- Genome
- hg19
- Position
- chr12:95,414,005-95,467,394
- Genome
- hg38
- Position
- chr12:95,020,229-95,073,618
- MIM
- 601529 OMIM
- HGNC
- HGNC:7971 HGNC
- Ensembl
- ENSG00000120798 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely pathogenic | 0 | 2 |
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 52 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
56 |
 |
2 |
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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| 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 | TR2 |
| MIM | 601529 OMIM |
| HGNC | HGNC:7971 HGNC |
| Ensembl | ENSG00000120798 Ensembl |
| AllianceGenome | HGNC:7971 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000393101.7 | hg38 | chr12 | 95,030,409 | 95,073,580 | 43,172 |
| ENST00000333003.10 | hg38 | chr12 | 95,020,229 | 95,073,618 | 53,390 |
| ENST00000622476.4 | hg38 | chr12 | 95,028,458 | 95,073,628 | 45,171 |
| ENST00000330677.7 | hg38 | chr12 | 95,030,418 | 95,073,537 | 43,120 |
| ENST00000333003.10 | hg19 | chr12 | 95,414,005 | 95,467,394 | 53,390 |
| ENST00000330677.7 | hg19 | chr12 | 95,424,194 | 95,467,313 | 43,120 |
| ENST00000393101.7 | hg19 | chr12 | 95,424,185 | 95,467,356 | 43,172 |
| ENST00000622476.4 | hg19 | chr12 | 95,422,234 | 95,467,404 | 45,171 |
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