Variant #0000523583 (NC_000004.11:g.980932G>A, IDUA(NM_000203.3):c.60G>A)

Chromosome 4
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.980932G>A
DNA change (hg38) g.987144G>A
Published as IDUA(NM_000203.5):c.60G>A (p.A20=), SLC26A1(NM_134425.3):c.576+3984C>T, SLC26A1(NM_134425.4):c.576+3984C>T
ISCN -
DB-ID IDUA_000086 See all 6 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) 0.50252 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IDUA NM_000203.3 -/. - c.60G>A r.(?) p.(Ala20=)
SLC26A1 NM_213613.3 -/. - c.*1689C>T r.(=) p.(=)