Variant #0000184193 (NC_000023.10:g.148585784C>G, IDS(NM_000202.5):c.143G>C)

Individual ID 00114491
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.148585784C>G
DNA change (hg38) g.149504254C>G
Published as -
ISCN -
DB-ID IDS_000045
Variant remarks -
Reference PubMed: Sukegawa 1995
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site HhaI-
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 +/. 2 c.143G>C r.143g>c p.Arg48Pro



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000114948 DNA SEQ - - IDS 1 Johan den Dunnen