Genomic variant #0000184559

Individual ID 00114756
Chromosome X
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.2867432dupA
DNA change (hg38) g.2949391dupA
Published as -
ISCN -
DB-ID ARSE_000032 See all 2 reported entries
Variant remarks -
Reference PubMed: Nino 2008
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 Claudia Matos-Miranda




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ARSE NM_000047.2 +/. 6 c.767dupT - r.(?) p.(255fs32*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000115213 DNA SEQ - - ARSE 1 Claudia Matos-Miranda