PRIM1 DNA primase subunit 1
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 6 |
| Likely pathogenic | 0 | 2 |
| Benign | 0 | 2 |
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 30 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
38 |
 |
6 |
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
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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 | |||||||||||
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MGeND data only
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| 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 | PDIL |
| SYNONYM | p49 |
| MIM | 176635 OMIM |
| HGNC | HGNC:9369 HGNC |
| Ensembl | ENSG00000198056 Ensembl |
| AllianceGenome | HGNC:9369 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000672280.1 | hg38 | chr12 | 56,731,296 | 56,752,374 | 21,079 |
| ENST00000706567.1 | hg38 | chr12 | 56,733,782 | 56,752,374 | 18,593 |
| ENST00000338193.11 | hg38 | chr12 | 56,731,580 | 56,752,323 | 20,744 |
| ENST00000672280.1 | hg19 | chr12 | 57,125,080 | 57,146,158 | 21,079 |
| ENST00000338193.11 | hg19 | chr12 | 57,125,364 | 57,146,107 | 20,744 |
| ENST00000706567.1 | hg19 | chr12 | 57,127,566 | 57,146,158 | 18,593 |
| Key | Value |
|---|---|
| strand | - |
| start | 57,125,363 |
| Gene Symbol | PRIM1 |
| Entrez GeneId | 5,557 |
| Chr Band | 12q13 |
| end | 57,146,145 |
| chr | chr12 |
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