NM_000169.3(GLA):c.761T>C (p.Val254Ala) 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:
- RCV000209113.1
Allele description
NM_000169.3(GLA):c.761T>C (p.Val254Ala)
Condition(s)
- Name:
- Migalastat response
- Synonyms:
- 1-Deoxygalactonojirimycin response; Galafold response
- Identifiers:
- MedGen: CN233149
Assertion and evidence details
Last Updated: Aug 13, 2023