chr17:64350416:T>C Detail (hg38) (PECAM1)

Information

Genome

Assembly Position
hg19  
hg38 chr17:64,350,416-64,350,416

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000563924.6:c.2008A>G ENST00000563924.6:p.Arg670Gly
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 173445 OMIM
HGNC 8823 HGNC
Ensembl ENSG00000261371 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv174551881 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign no assertion criteria provided Three Vessel Coronary Disease somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 Chronic Kidney Diseases The chi-square test and multivariable logistic regression analysis with adjustme... BeFree 19406964 Detail
<0.001 Chronic Kidney Diseases The chi-square test and multivariable logistic regression analysis with adjustme... BeFree 19406964 Detail
0.002 Chronic Kidney Diseases The chi-square test and multivariable logistic regression analysis with adjustme... BeFree 19406964 Detail
<0.001 Chronic Kidney Diseases The chi-square test and multivariable logistic regression analysis with adjustme... BeFree 19406964 Detail
0.008 myocardial infarction The 643R allele of R643G polymorphism (also known as R670G in the premature prot... BeFree 15488875 Detail
0.003 coronary stenosis The 643R allele of R643G polymorphism (also known as R670G in the premature prot... BeFree 15488875 Detail
0.001 Chronic graft-versus-host disease We evaluated the association of 4 SNPs in ICAM1 (rs5498), PECAM1 (rs668 and rs11... BeFree 22646485 Detail
<0.001 Chronic Kidney Diseases The chi-square test and multivariable logistic regression analysis with adjustme... BeFree 19406964 Detail
0.008 myocardial infarction Polymorphisms in the platelet-endothelial cell adhesion molecule-1 (PECAM-1) gen... BeFree 11795274 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000442.5(PECAM1):c.2008A>G (p.Arg670Gly) AND Three Vessel Coronary Disease ClinVar Detail
The chi-square test and multivariable logistic regression analysis with adjustment for covariates re... DisGeNET Detail
The chi-square test and multivariable logistic regression analysis with adjustment for covariates re... DisGeNET Detail
The chi-square test and multivariable logistic regression analysis with adjustment for covariates re... DisGeNET Detail
The chi-square test and multivariable logistic regression analysis with adjustment for covariates re... DisGeNET Detail
The 643R allele of R643G polymorphism (also known as R670G in the premature protein) in PECAM-1 has ... DisGeNET Detail
The 643R allele of R643G polymorphism (also known as R670G in the premature protein) in PECAM-1 has ... DisGeNET Detail
We evaluated the association of 4 SNPs in ICAM1 (rs5498), PECAM1 (rs668 and rs1131012) and SELL (rs2... DisGeNET Detail
The chi-square test and multivariable logistic regression analysis with adjustment for covariates re... DisGeNET Detail
Polymorphisms in the platelet-endothelial cell adhesion molecule-1 (PECAM-1) gene, Asn563Ser and Gly... 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
rs1131012 dbSNP
Genome
hg38
Position
chr17:64,350,416-64,350,416
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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