chr10:51299646:T>C Detail (hg38) (PRKG1, MIR605)

Information

Genome

Assembly Position
hg19 chr10:53,059,406-53,059,406 View the variant detail on this assembly version.
hg38 chr10:51,299,646-51,299,646

HGVS

Type Transcript Protein
RefSeq NM_006258.3:c.478+146316T>C
Ensemble ENST00000373976.9:c.478+146316T>C
ENST00000373980.11:c.478+146316T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.308
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.277

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 176894 OMIM
HGNC 9414 HGNC
Ensembl ENSG00000185532 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv39270515 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-07-13 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.004 Malignant neoplasm of breast To explore the relevance of miRNA polymorphisms and female physiological charact... BeFree 22074121 Detail
0.001 Malignant neoplasm of breast To explore the relevance of miRNA polymorphisms and female physiological charact... BeFree 22074121 Detail
<0.001 breast carcinoma In conclusion, the current meta-analysis supports that the miR-196a-2 rs11614913... BeFree 23982873 Detail
<0.001 Malignant neoplasm of breast In conclusion, the current meta-analysis supports that the miR-196a-2 rs11614913... BeFree 23982873 Detail
<0.001 breast carcinoma To explore the relevance of miRNA polymorphisms and female physiological charact... BeFree 22074121 Detail
<0.001 Malignant neoplasm of breast To explore the relevance of miRNA polymorphisms and female physiological charact... BeFree 22074121 Detail
0.002 breast carcinoma To explore the relevance of miRNA polymorphisms and female physiological charact... BeFree 22074121 Detail
0.001 breast carcinoma To explore the relevance of miRNA polymorphisms and female physiological charact... BeFree 22074121 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006258.4(PRKG1):c.478+146316T>C AND not provided ClinVar Detail
To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast c... DisGeNET Detail
To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast c... DisGeNET Detail
In conclusion, the current meta-analysis supports that the miR-196a-2 rs11614913*T, miR-499 rs374644... DisGeNET Detail
In conclusion, the current meta-analysis supports that the miR-196a-2 rs11614913*T, miR-499 rs374644... DisGeNET Detail
To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast c... DisGeNET Detail
To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast c... DisGeNET Detail
To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast c... DisGeNET Detail
To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast c... 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
rs2043556 dbSNP
Genome
hg38
Position
chr10:51,299,646-51,299,646
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))
rs2043556
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3082
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5166
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
618
East Asian Allele Counts (ExAC)
171
East Asian Heterozygous Counts (ExAC)
131
East Asian Homozygous Counts (ExAC)
20
East Asian Allele Frequency (ExAC)
0.2766990291262136
Chromosome Counts in All Race (ExAC)
21736
Allele Counts in All Race (ExAC)
5363
Heterozygous Counts in All Race (ExAC)
4043
Homozygous Counts in All Race (ExAC)
660
Allele Frequency in All Race (ExAC)
0.24673352962826647
Genome browser