Variant #0000842004 (NC_000006.11:g.(?_131894344)_(131894480_131897802)del, ARG1(NM_000045.3):c.-79_(57+1_58-1){0})

Individual ID 00404620
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.(?_131894344)_(131894480_131897802)del
DNA change (hg38) -
Published as del ex1
ISCN -
DB-ID ARG1_000070 See all 2 reported entries
Variant remarks -
Reference PubMed: Diez-Fernandez 2018
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 +/. _1_1i c.-79_(57+1_58-1){0} r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000405860 DNA SEQ - - ARG1 1 Johan den Dunnen