Variant #0000184182 (NC_000023.10:g.148586597dup, IDS(NM_000202.5):c.71dup)

Individual ID 00114616
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.148586597dup
DNA change (hg38) g.149505067dup
Published as 70_71insT
ISCN -
DB-ID IDS_000124
Variant remarks -
Reference PubMed: Vafiadaki 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 +/. 1 c.71dup r.(?) p.(Gly25Argfs*22)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000115073 DNA SEQ - - IDS 1 Johan den Dunnen