Variant #0000842079 (NC_000006.11:g.131901748T>C, ARG1(NM_000045.3):c.306-611T>C)

Individual ID 00404675
Chromosome 6
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.131901748T>C
DNA change (hg38) -
Published as 305+1323t > c
ISCN -
DB-ID ARG1_000096 See all 2 reported entries
Variant remarks -
Reference PubMed: Cohen 2012
ClinVar ID -
dbSNP ID -
Origin Germline
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARG1 NM_000045.3 +/. 3i c.306-611T>C r.305_306ins306-620_306-496del p.Leu103fs



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000405915 DNA;RNA RT-PCR;SEQ - - ARG1 1 Johan den Dunnen