Variant #0000841943 (NC_000006.11:g.131893559G>T, ARG1(NM_000045.3):-)

Individual ID 00404573
Chromosome 6
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification association
DNA change (genomic) (Relative to hg19 / GRCh37) g.131893559G>T
DNA change (hg38) -
Published as -864G>T
ISCN -
DB-ID ARG1_000038
Variant remarks significant association with myocardial infarction (pā€Š=ā€Š0.005), increased for GT heterozygotes (OR (95% CI) 1.5 (1.1 to 2.0)) and TT homozygotes (OR (95% CI) 2.2 (1.1 to 4.4))
Reference PubMed: Dumont 2007
ClinVar ID -
dbSNP ID rs2781666
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARG1 NM_000045.3 ?/. _1 - r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000405813 DNA arraySNP - - ARG1 1 Johan den Dunnen