Variant #0000000349 (NC_000023.10:g.148584992A>G, IDS(NM_000202.5):c.268T>C)

Individual ID 00000131
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.148584992A>G
Reference -
DB-ID IDS_000010
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Variome.ir
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Variome.ir
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Clinical classification     
IDS NM_000202.5 ./. - c.268T>C r.(?) p.(Ser90Pro) likely pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000134 DNA SEQ-NG IDS 1 Variome.ir