chr3:49359318:T>C Detail (hg38) (RHOA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:49,396,751-49,396,751 View the variant detail on this assembly version. |
| hg38 | chr3:49,359,318-49,359,318 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001313941.1:c.*891A>G | |
| NM_001313944.1:c.*891A>G | ||
| NM_001313945.1:c.*891A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:1.000 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
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 |
|---|---|---|---|---|---|
| <0.001 | Stage IV Prostate Cancer AJCC v7 | Seven interactions were statistically significant after adjusting for multiple t... | BeFree | 25315963 | Detail |
| <0.001 | Stage IV Prostate Cancer AJCC v7 | Seven interactions were statistically significant after adjusting for multiple t... | BeFree | 25315963 | Detail |
| <0.001 | Stage IV Prostate Cancer AJCC v7 | Seven interactions were statistically significant after adjusting for multiple t... | BeFree | 25315963 | Detail |
| <0.001 | Stage IV Prostate Carcinoma | Seven interactions were statistically significant after adjusting for multiple t... | BeFree | 25315963 | Detail |
| <0.001 | Stage IV Prostate Carcinoma | Seven interactions were statistically significant after adjusting for multiple t... | BeFree | 25315963 | Detail |
| <0.001 | Stage IV Prostate Carcinoma | Seven interactions were statistically significant after adjusting for multiple t... | BeFree | 25315963 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Seven interactions were statistically significant after adjusting for multiple testing (FDR Q-value ... | DisGeNET | Detail |
| Seven interactions were statistically significant after adjusting for multiple testing (FDR Q-value ... | DisGeNET | Detail |
| Seven interactions were statistically significant after adjusting for multiple testing (FDR Q-value ... | DisGeNET | Detail |
| Seven interactions were statistically significant after adjusting for multiple testing (FDR Q-value ... | DisGeNET | Detail |
| Seven interactions were statistically significant after adjusting for multiple testing (FDR Q-value ... | DisGeNET | Detail |
| Seven interactions were statistically significant after adjusting for multiple testing (FDR Q-value ... | 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
- -
- dbSNP
- rs3448 dbSNP
- Genome
- hg38
- Position
- chr3:49,359,318-49,359,318
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs3448
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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