NM_000271.5(NPC1):c.3432C>G (p.Leu1144=) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000597552.4
Allele description [Variation Report for NM_000271.5(NPC1):c.3432C>G (p.Leu1144=)]
NM_000271.5(NPC1):c.3432C>G (p.Leu1144=)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Sep 29, 2024