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 International |
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) |

Variant on transcripts
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