Variant #0000222793 (NC_000023.10:g.148585824C>T, IDS(NM_000202.5):c.104-1G>A)

Individual ID 00132735
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.148585824C>T
DNA change (hg38) g.149504294C>T
Published as -
ISCN -
DB-ID IDS_000184
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Paula Rozenfeld
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IDS NM_000202.5 +/. 1i c.104-1G>A r.(104_240del) p.(Asp35Alafs*18)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000133570 DNA SEQ - - IDS 1 Paula Rozenfeld