Genomic variant #0000184528

Individual ID 00114731
Chromosome X
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification -
DNA change (genomic) (Relative to hg19 / GRCh37) g.2876372_2876374delAGA
DNA change (hg38) g.2958331_2958333delAGA
Published as -
ISCN -
DB-ID ARSE_000023
Variant remarks -
Reference submitted 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 Gene Dx
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARSE NM_000047.2 +/. 3 c.126_128delTCT r.(?) p.(Leu43del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000115188 DNA SEQ - - ARSE 1 Gene Dx