Variant #0000886459 (NC_000004.11:g.981646C>T, IDUA(NM_000203.3):c.208C>T)

Chromosome 4
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.981646C>T
DNA change (hg38) -
Published as IDUA(NM_000203.3):c.208C>T (p.(Gln70*)), IDUA(NM_000203.5):c.208C>T (p.Q70*)
ISCN -
DB-ID IDUA_000004 See all 39 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0005 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IDUA NM_000203.3 +?/. - c.208C>T r.(?) p.(Gln70Ter)
SLC26A1 NM_213613.3 +?/. - c.*975G>A r.(=) p.(=)