chr2:11359120:G>T Detail (hg19) (ROCK2)

Information

Genome

Assembly Position
hg19 chr2:11,359,120-11,359,120
hg38 chr2:11,218,994-11,218,994 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001321643.1:c.1292C>A NP_001308572.1:p.Thr431Asn
NM_004850.4:c.1292C>A NP_004841.2:p.Thr431Asn
Ensemble ENST00000315872.11:c.1292C>A ENST00000315872.11:p.Thr431Asn
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.366
ToMMo:0.396
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.424

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 604002 OMIM
HGNC 10252 HGNC
Ensembl ENSG00000134318 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv5864083 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2016-03-29 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Chronic Kidney Diseases The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 19578796 Detail
0.001 Chronic Kidney Diseases The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 19578796 Detail
<0.001 Chronic Kidney Diseases The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 19578796 Detail
<0.001 breast carcinoma Association between the Thr431Asn polymorphism of the ROCK2 gene and risk of dev... BeFree 20939434 Detail
0.001 Neoplasm Metastasis Association between the Thr431Asn polymorphism of the ROCK2 gene and risk of dev... BeFree 20939434 Detail
0.003 Malignant neoplasm of breast Association between the Thr431Asn polymorphism of the ROCK2 gene and risk of dev... BeFree 20939434 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004850.5(ROCK2):c.1292C>A (p.Thr431Asn) AND not specified ClinVar Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for covariates, and ... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for covariates, and ... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for covariates, and ... DisGeNET Detail
Association between the Thr431Asn polymorphism of the ROCK2 gene and risk of developing metastases o... DisGeNET Detail
Association between the Thr431Asn polymorphism of the ROCK2 gene and risk of developing metastases o... DisGeNET Detail
Association between the Thr431Asn polymorphism of the ROCK2 gene and risk of developing metastases o... 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
rs2230774 dbSNP
Genome
hg19
Position
chr2:11,359,120-11,359,120
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1099
Mean of sample read depth (HGVD)
45.33
Standard deviation of sample read depth (HGVD)
20.99
Number of reference allele (HGVD)
1394
Number of alternative allele (HGVD)
804
Allele Frequency (HGVD)
0.36578707916287534
Gene Symbol (HGVD)
ROCK2
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))
rs2230774
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3963
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6642
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8606
East Asian Allele Counts (ExAC)
3647
East Asian Heterozygous Counts (ExAC)
2101
East Asian Homozygous Counts (ExAC)
773
East Asian Allele Frequency (ExAC)
0.42377411108528934
Chromosome Counts in All Race (ExAC)
119884
Allele Counts in All Race (ExAC)
59720
Heterozygous Counts in All Race (ExAC)
29074
Homozygous Counts in All Race (ExAC)
15323
Allele Frequency in All Race (ExAC)
0.49814820993627174
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