Variant #0000184207 (NC_000023.10:g.?, IDS(NM_000202.5):c.240+12_(1006+1_1007-1)delins(?))

Individual ID 00114387
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.?
DNA change (hg38) -
Published as -
ISCN -
DB-ID IDS_000000 See all 5 reported entries
Variant remarks IDS-IDS2 pseudogene rearrangement, internal deletion exons 4-7 replaced by pseudogene 3i_7i related sequences
Reference PubMed: Birot 1996
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
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 +/. 3i_7i c.240+12_(1006+1_1007-1)delins(?) r.[241_1006del, 419_1006del] p.[Gln81Glyfs*4, Ile141_Gly336del]



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000114844 DNA SEQ - - IDS 1 Johan den Dunnen