NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000413372.2
Allele description [Variation Report for NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg)]
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
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Last Updated: Mar 16, 2024