Genomic variant #0000174947

Individual ID 00108471
Chromosome 6
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.131894480G>A
DNA change (hg38) g.131573340G>A
Published as IVS1+1G>A
ISCN -
DB-ID ARG1_000013 See all 3 reported entries
Variant remarks -
Reference PubMed: Uchino 1995, OMIM:var0010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ARG1 NM_000045.3 +/. 1i c.57+1G>A - r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108938 DNA SEQ - - ARG1 2 Johan den Dunnen