Variant #0000174950 (NC_000006.11:g.131897806C>T, ARG1(NM_000045.3):c.61C>T)

Individual ID 00108473
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.131897806C>T
DNA change (hg38) g.131576666C>T
Published as -
ISCN -
DB-ID ARG1_000015 See all 17 reported entries
Variant remarks -
Reference PubMed: Cardoso 1999, OMIM:var0011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site NlaIII+
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 6.0E-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 +/. 2 c.61C>T r.(spl?) p.(Arg21*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108940 DNA SEQ - - ARG1 1 Johan den Dunnen