chr3:49396751:T>C Detail (hg19) (RHOA)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:49,396,751-49,396,751 |
hg38 | chr3:49,359,318-49,359,318 View the variant detail on this assembly version. |
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
- hg19
- Position
- chr3:49,396,751-49,396,751
- 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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