chr2:187543227:G>C Detail (hg19) (ITGAV)

Information

Genome

Assembly Position
hg19 chr2:187,543,227-187,543,227
hg38 chr2:186,678,500-186,678,500 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002210.4:c.*1208G>C
NM_001145000.2:c.*1208G>C
Ensemble ENST00000261023.8:c.*1208G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.089
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 193210 OMIM
HGNC 6150 HGNC
Ensembl ENSG00000138448 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv9839110 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
0.006 Neoplasm Metastasis The following factors resulted independently associated with peritoneal carcinos... BeFree 20926544 Detail
<0.001 prostate carcinoma The ITGAv gene SNP rs11902171 may be potentially associated with the risk of pro... BeFree 23065910 Detail
<0.001 Malignant neoplasm of prostate The ITGAv gene SNP rs11902171 may be potentially associated with the risk of pro... BeFree 23065910 Detail
<0.001 Carcinomatosis Tumor histology represents a crucial issue conditioning tumoral behavior; genoty... BeFree 20926544 Detail
Annotation

Annotations

DescrptionSourceLinks
The following factors resulted independently associated with peritoneal carcinosis or hematogenous m... DisGeNET Detail
The ITGAv gene SNP rs11902171 may be potentially associated with the risk of prostate cancer. DisGeNET Detail
The ITGAv gene SNP rs11902171 may be potentially associated with the risk of prostate cancer. DisGeNET Detail
Tumor histology represents a crucial issue conditioning tumoral behavior; genotyping of rs2269772 (I... 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
rs11902171 dbSNP
Genome
hg19
Position
chr2:187,543,227-187,543,227
Variant Type
snv
Reference Allele
G
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))
rs11902171
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0887
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1486
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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