Variant #0000184195 (NC_000023.10:g.148585704G>A, IDS(NM_000202.5):c.223C>T)

Individual ID 00114371
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.148585704G>A
DNA change (hg38) g.149504174G>A
Published as -
ISCN -
DB-ID IDS_000159
Variant remarks -
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) Variant not found in online data sets
Owner Miguel Angel Alcántara-Ortigoza
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IDS NM_000202.5 +/. 2 c.223C>T r.(?) p.(Gln75*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000114828 DNA SEQ - - IDS 1 Miguel Angel Alcántara-Ortigoza