chr19:51965039:A>G Detail (hg38) (ZNF350)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:52,468,292-52,468,292 View the variant detail on this assembly version. |
| hg38 | chr19:51,965,039-51,965,039 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_021632.3:c.1414T>C | NP_067645.3:p.Ser472Pro |
| Ensemble | ENST00000243644.9:c.1414T>C | ENST00000243644.9:p.Ser472Pro |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.002 | breast carcinoma | In conclusion, the genetic variants evaluated are unlikely to have a substantial... | BeFree | 16485136 | Detail |
| 0.011 | breast carcinoma | In conclusion, the genetic variants evaluated are unlikely to have a substantial... | BeFree | 16485136 | Detail |
| 0.085 | Malignant neoplasm of breast | In conclusion, the genetic variants evaluated are unlikely to have a substantial... | BeFree | 16485136 | Detail |
| 0.080 | breast carcinoma | In conclusion, the genetic variants evaluated are unlikely to have a substantial... | BeFree | 16485136 | Detail |
| 0.480 | Malignant neoplasm of breast | In conclusion, the genetic variants evaluated are unlikely to have a substantial... | BeFree | 16485136 | Detail |
| 0.009 | Malignant neoplasm of breast | In conclusion, the genetic variants evaluated are unlikely to have a substantial... | BeFree | 16485136 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In conclusion, the genetic variants evaluated are unlikely to have a substantial overall association... | DisGeNET | Detail |
| In conclusion, the genetic variants evaluated are unlikely to have a substantial overall association... | DisGeNET | Detail |
| In conclusion, the genetic variants evaluated are unlikely to have a substantial overall association... | DisGeNET | Detail |
| In conclusion, the genetic variants evaluated are unlikely to have a substantial overall association... | DisGeNET | Detail |
| In conclusion, the genetic variants evaluated are unlikely to have a substantial overall association... | DisGeNET | Detail |
| In conclusion, the genetic variants evaluated are unlikely to have a substantial overall association... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg38
- Position
- chr19:51,965,039-51,965,039
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8644
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121274
- Allele Counts in All Race (ExAC)
- 3733
- Heterozygous Counts in All Race (ExAC)
- 3589
- Homozygous Counts in All Race (ExAC)
- 72
- Allele Frequency in All Race (ExAC)
- 0.0307815360258588
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