Variant #0000184187 (NC_000023.10:g.148585825T>C, IDS(NM_000202.5):c.104-2A>G)

Individual ID 00114653
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.148585825T>C
DNA change (hg38) g.149504295T>C
Published as -
ISCN -
DB-ID IDS_000023 See all 3 reported entries
Variant remarks RNA level 0.7 of normal
Reference PubMed: Alves 2006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Yu Sun
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IDS NM_000202.5 +/. 1i c.104-2A>G r.[104_212del, 103_104ins104-216_104-1;104-2a>g] p.fs*



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000115110 DNA SEQ - - IDS 1 Yu Sun