PGRMC1 progesterone receptor membrane component 1
Information
- Symbol
- PGRMC1
- Type
- protein-coding
- Description
- progesterone receptor membrane component 1
- Entrez Gene ID
- 10857
- Genome
- hg19
- Position
- chrX:118,370,248-118,378,429
- Genome
- hg38
- Position
- chrX:119,236,285-119,244,466
- MIM
- 300435 OMIM
- HGNC
- HGNC:16090 HGNC
- Ensembl
- ENSG00000101856 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely pathogenic | 0 | 4 |
| Benign | 0 | 2 |
| Likely benign | 0 | 4 |
| not provided | 6 | 0 |
| Uncertain significance | 0 | 14 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
20 |
 |
4 |
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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| 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 | Dap1 |
| SYNONYM | HPR6.6 |
| SYNONYM | IZA |
| SYNONYM | MPR |
| MIM | 300435 OMIM |
| HGNC | HGNC:16090 HGNC |
| Ensembl | ENSG00000101856 Ensembl |
| AllianceGenome | HGNC:16090 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000217971.8 | hg38 | chrX | 119,236,285 | 119,244,466 | 8,182 |
| ENST00000535419.2 | hg38 | chrX | 119,236,245 | 119,244,465 | 8,221 |
| ENST00000535419.2 | hg19 | chrX | 118,370,208 | 118,378,428 | 8,221 |
| ENST00000217971.8 | hg19 | chrX | 118,370,248 | 118,378,429 | 8,182 |
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