Genomic variant #0000174958

Individual ID 00108478
Chromosome 6
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.131897823delA
DNA change (hg38) g.131576683delA
Published as -
ISCN -
DB-ID ARG1_000005
Variant remarks -
Reference PubMed: Haraguchi 1990, OMIM:var0002
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 +/. 2 c.78delA - r.(?) p.fsX



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108945 DNA SEQ - - ARG1 2 Johan den Dunnen