Variant #0000184356 (NC_000023.10:g.(148568630_148568631)?, IDS(NM_000202.5):c.(1007-2_1007-1)?)

Individual ID 00114446
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.(148568630_148568631)?
DNA change (hg38) -
Published as 1131_1142del
ISCN -
DB-ID IDS_000183
Variant remarks -
Reference PubMed: Filocamo 2001
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site BanII-
VIP 0
Methylation -
Average frequency (large NGS studies) Genomic location of variant could not be determined
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IDS NM_000202.5 +/. 8 c.(1007-2_1007-1)? r.1007_1018del p.Trp337_Gly340del



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000114903 DNA SEQ - - IDS 1 Johan den Dunnen