Variant #0000222782 (NC_000023.10:g.148586634_148586649del, IDS(NM_000202.5):c.22_37del)

Individual ID 00132724
Chromosome X
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.148586634_148586649del
DNA change (hg38) g.149505104_149505119del
Published as 22_37del16pb
ISCN -
DB-ID IDS_000214
Variant remarks -
Reference -
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 Paula Rozenfeld
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IDS NM_000202.5 +/. 1 c.22_37del r.(?) p.(Arg8Trpfs*5)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000133559 DNA SEQ - - IDS 1 Paula Rozenfeld