Genomic variant #0000184176

Individual ID 00114644
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.148586646_148586647insC
DNA change (hg38) g.149505116_149505117insC
Published as -
ISCN -
DB-ID IDS_000141
Variant remarks -
Reference PubMed: Kim 2003
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.21_22insG r.(?) p.Arg8fs



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000115101 DNA SEQ - - IDS 1 Johan den Dunnen