Genomic variant #0000184565

Individual ID 00114761
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.2854783_2864175del
DNA change (hg38) g.2936742_2946134del
Published as -
ISCN -
DB-ID ARSE_000034 See all 3 reported entries
Variant remarks deletion exons 7-10
Reference PubMed: Casarin 2009
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 +/. 6i_10i c.855-?_1411+?del - r.(?) p.(del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000115218 DNA SEQ - - ARSE 1 Claudia Matos-Miranda