NM_000271.4(NPC1):c.3104C>T (p.Ala1035Val) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 2, 2012
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000078477.3
Allele description
NM_000271.4(NPC1):c.3104C>T (p.Ala1035Val)
Condition(s)
- Identifiers:
- MedGen: CN517202
Assertion and evidence details
Last Updated: Feb 13, 2018