NM_014946.4(SPAST):c.1209C>A (p.Phe403Leu) AND Hereditary spastic paraplegia
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 5, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001848144.3
Allele description [Variation Report for NM_014946.4(SPAST):c.1209C>A (p.Phe403Leu)]
NM_014946.4(SPAST):c.1209C>A (p.Phe403Leu)
Condition(s)
-
Frontal cutaneous lipoma
Frontal cutaneous lipomaMedGen
-
Lipoma of stomach
Lipoma of stomachMedGen
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023