NM_000235.4(LIPA):c.1133T>C (p.Ile378Thr) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 12, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002443018.3
Allele description [Variation Report for NM_000235.4(LIPA):c.1133T>C (p.Ile378Thr)]
NM_000235.4(LIPA):c.1133T>C (p.Ile378Thr)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
Assertion and evidence details
Last Updated: May 1, 2024