NM_000318.3(PEX2):c.571A>C (p.Met191Leu) AND Zellweger spectrum disorders
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 29, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001830324.1
Allele description [Variation Report for NM_000318.3(PEX2):c.571A>C (p.Met191Leu)]
NM_000318.3(PEX2):c.571A>C (p.Met191Leu)
Condition(s)
-
Lower respiratory tract infection
Lower respiratory tract infectionMedGen
-
C0149725[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024