Variant #0000174940 (NC_000006.11:g.131897807G>A, ARG1(NM_000045.3):c.62G>A)

Individual ID 00108477
Chromosome 6
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.131897807G>A
DNA change (hg38) g.131576667G>A
Published as -
ISCN -
DB-ID ARG1_000001
Variant remarks -
Reference PubMed: Mitchell 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/94
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00083 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARG1 NM_000045.3 -/. 2 c.62G>A r.(?) p.(Arg21Gln )



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108944 DNA MCA;SEQ - - ARG1 1 Johan den Dunnen