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
Links
Type Database ID Link
Gene MIM 165390 OMIM
HGNC 667 HGNC
Ensembl ENSG00000067560 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv12407564 TogoVar
COSMIC
MONDO
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

DescrptionSourceLinks
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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