Variant #0000174962 (NC_000006.11:g.131903759A>G, ARG1(NM_000045.3):c.466-2A>G)

Individual ID 00108482
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.131903759A>G
DNA change (hg38) g.131582619A>G
Published as IVS4-2A>G
ISCN -
DB-ID ARG1_000014 See all 2 reported entries
Variant remarks -
Reference PubMed: Uchino 1995, OMIM:var0011
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 +/. 4i c.466-2A>G r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108949 DNA SEQ - - ARG1 1 Johan den Dunnen