ClinVar Genomic variation as it relates to human health
NM_000203.5(IDUA):c.72C>G (p.Ala24=)
Germline
Classification
(1)
Likely benign
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
IDUA | - | - |
GRCh38 GRCh37 |
1391 | 2155 | |
SLC26A1 | - | - |
GRCh38 GRCh37 |
3 | 766 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Nov 4, 2022 | RCV003755408.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 30, 2024