Variant #0000000310 (NC_000023.10:g.148586583G>A, IDS(NM_000202.5):c.85C>T)

Individual ID 00000095
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.148586583G>A
Reference -
DB-ID IDS_000008
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Clinical classification     
IDS NM_000202.5 +/+ - c.85C>T r.(?) p.(Gln29*) pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000098 DNA SEQ IDS 1 Variome.ir