NM_000169.3(GLA):c.3G>A (p.Met1Ile) AND Cardiovascular phenotype
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 21, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004629626.1
Allele description [Variation Report for NM_000169.3(GLA):c.3G>A (p.Met1Ile)]
NM_000169.3(GLA):c.3G>A (p.Met1Ile)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
Assertion and evidence details
Last Updated: Oct 26, 2024