Variant #0000841934 (NC_000006.11:g.131902475A>T, ARG1(NM_000045.3):c.422A>T)

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.131902475A>T
DNA change (hg38) g.131581335A>T
Published as H141L
ISCN -
DB-ID ARG1_000034 See all 2 reported entries
Variant remarks no in vivo RBC arginase activity (<0.05)
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.422A>T - p.His141Leu