NM_000533.5(PLP1):c.453+43del AND Hereditary spastic paraplegia 2
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Sep 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003622329.2
Allele description [Variation Report for NM_000533.5(PLP1):c.453+43del]
NM_000533.5(PLP1):c.453+43del
Condition(s)
-
alcohol dehydrogenase Adh1 [Schizosaccharomyces pombe]
alcohol dehydrogenase Adh1 [Schizosaccharomyces pombe]gi|19075744|ref|NP_588244.1|Protein
-
Delayed umbilical cord separation
Delayed umbilical cord separationMedGen
-
transporter [Schizosaccharomyces pombe]
transporter [Schizosaccharomyces pombe]Gene ID:2543555Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024