Variant #0000841936 (NC_000006.11:g.131904948C>G, ARG1(NM_000045.3):c.869C>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.131904948C>G
DNA change (hg38) -
Published as R291X
ISCN -
DB-ID ARG1_000007 See all 4 reported entries
Variant remarks cDNA expression cloning E.coli arginase activity <0.01, 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) 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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARG1 NM_000045.3 +/. - c.869C>G - p.Thr290Ser