Variant #0000184340 (NC_000023.10:g.(148568446_148568639)?, IDS(NM_000202.5):c.(1007-10_1180+10)?)

Individual ID 00114379
Chromosome X
Allele Maternal (confirmed)
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.(148568446_148568639)?
DNA change (hg38) -
Published as RNA exon 8 skip
ISCN -
DB-ID IDS_000000 See all 5 reported entries
Variant remarks variant unknown at genomic DNA level, normal results were obtained after PCR-RFLP Hinf restriction pattern for IDS/IDSP1 inversin and after complete IDS exon/exon-intron border sequencing.
Reference PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016
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 Miguel Angel Alcántara-Ortigoza




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IDS NM_000202.5 +/. 7i_8i c.(1007-10_1180+10)? r.1007_1180del p.(Trp337_Gly394del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000114836 DNA;RNA PCRdig;RT-PCR;SEQ - - IDS 1 Miguel Angel Alcántara-Ortigoza