Genomic variant #0000184217

Individual ID 00114442
Chromosome X
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.148585003G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID IDS_000026 See all 7 reported entries
Variant remarks -
Reference PubMed: Isogai 1998
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site DdaI+
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)     

ClassClinical     

RNA change     

Protein     
IDS NM_000202.5 +/. 3 c.257C>T - r.[257c>u, 241_284del] p.[Pro86Leu, Gln81Glufs*3]



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000114899 DNA SEQ - - IDS 1 Johan den Dunnen