Variant #0000841932 (NC_000006.11:g.131902436A>G, ARG1(NM_000045.3):c.383A>G)

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.131902436A>G
DNA change (hg38) g.131581296A>G
Published as D128G
ISCN -
DB-ID ARG1_000033 See all 7 reported entries
Variant remarks cDNA expression cloning E.coli no arginase activity (0.01), no in vivo RBC arginase activity (<0.02)
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) 3.0E-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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARG1 NM_000045.3 +/. - c.383A>G - p.Asp128Gly