Variant #0000677345 (NC_000004.11:g.981684C>G, IDUA(NM_000203.3):c.246C>G)

Chromosome 4
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.981684C>G
DNA change (hg38) -
Published as IDUA(NM_000203.5):c.246C>G (p.H82Q), SLC26A1(NM_213613.4):c.*937G>C
ISCN -
DB-ID IDUA_000095 See all 3 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) 0.00294 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2020-08-06 14:59:34 +02:00 (CEST)
Date last edited 2020-09-15 15:50:26 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IDUA NM_000203.3 ?/. - c.246C>G r.(?) p.(His82Gln)
SLC26A1 NM_213613.3 ?/. - c.*937G>C r.(=) p.(=)