The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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- Gene label mismatch: IDUA vs undefined
- Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
- No CSPEC computed assertion could be determined for this classification!
Variant: NM_000203.5(IDUA):c.1614del (p.His539fs)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA234129
167191 (ClinVar)
Gene: IDUA
Condition: mucopolysaccharidosis type 1
Inheritance Mode: Autosomal recessive inheritance
UUID: 98bf998c-00fc-4ac7-a520-d7c75b4de17d
Approved on: 2024-12-05
Published on: 2025-03-20
HGVS expressions
NM_000203.5:c.1614del
NM_000203.5(IDUA):c.1614del (p.His539fs)
NC_000004.12:g.1003434del
CM000666.2:g.1003434del
NC_000004.11:g.997222del
CM000666.1:g.997222del
NC_000004.10:g.987222del
NG_008103.1:g.21438del
ENST00000247933.9:c.1614del
ENST00000514224.2:c.1614del
ENST00000652070.1:n.1670del
ENST00000247933.8:c.1614del
ENST00000514224.1:c.1218del
ENST00000514417.1:n.6del
ENST00000514698.5:n.1721del
NM_000203.4:c.1614del
NR_110313.1:n.1702del
NM_001363576.1:c.1218del
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Evidence submitted by expert panel
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