NM_000169.3(GLA):c.968C>G (p.Pro323Arg) AND Migalastat response
- Germline classification:
- drug response (1 submission)
- Last evaluated:
- Jan 1, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000209324.2
Allele description [Variation Report for NM_000169.3(GLA):c.968C>G (p.Pro323Arg)]
NM_000169.3(GLA):c.968C>G (p.Pro323Arg)
Condition(s)
- Name:
- Migalastat response
- Synonyms:
- 1-Deoxygalactonojirimycin response; Galafold response
- Identifiers:
- MedGen: CN233149
-
PREDICTED: Mastomys coucha nucleoporin 93 (Nup93), transcript variant X1, mRNA
PREDICTED: Mastomys coucha nucleoporin 93 (Nup93), transcript variant X1, mRNAgi|1768026666|ref|XM_031340902.1|Nucleotide
-
optimist (0)
Identical Protein Groups
-
UI-E-EJ0-ahj-l-10-0-UI.s1 UI-E-EJ0 Homo sapiens cDNA clone UI-E-EJ0-ahj-l-10-0-U...
UI-E-EJ0-ahj-l-10-0-UI.s1 UI-E-EJ0 Homo sapiens cDNA clone UI-E-EJ0-ahj-l-10-0-UI 3', mRNA sequencegi|18984167|gnl|dbEST|11255202|gb|B 69.1|Nucleotide
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Last Updated: Sep 29, 2024