NM_000466.3(PEX1):c.1109T>C (p.Ile370Thr) AND Zellweger spectrum disorders
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001867551.5
Allele description [Variation Report for NM_000466.3(PEX1):c.1109T>C (p.Ile370Thr)]
NM_000466.3(PEX1):c.1109T>C (p.Ile370Thr)
Condition(s)
-
Latreutes mucronatus[orgn] (0)
Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024