Variant #0000184189 (NC_000023.10:g.148582480_148585823del, IDS(NM_000202.5):c.104-?_507+?del)

Individual ID 00114451
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.148582480_148585823del
DNA change (hg38) -
Published as g.376_5725del, del ex2-4
ISCN -
DB-ID IDS_000035
Variant remarks Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message.
Reference {PMID:Bonuccelli 1998}
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 Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IDS NM_000202.5 +/. 1i c.104-?_507+?del r.104_507del p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000114908 DNA SEQ - - IDS 1 Johan den Dunnen