Variant #0000841931 (NC_000006.11:g.131902418G>A, ARG1(NM_000045.3):c.365G>A)

Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.131902418G>A
DNA change (hg38) g.131581278G>A
Published as W122X
ISCN -
DB-ID ARG1_000008 See all 6 reported entries
Variant remarks no in vivo RBC arginase activity (<0.01)
Reference PubMed: Vockley 1996
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
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 +/. - c.365G>A - p.Trp122*