NM_000318.3(PEX2):c.356G>A (p.Arg119Gln) AND Peroxisome biogenesis disorder 5A (Zellweger)
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003039742.2
Allele description [Variation Report for NM_000318.3(PEX2):c.356G>A (p.Arg119Gln)]
NM_000318.3(PEX2):c.356G>A (p.Arg119Gln)
Condition(s)
-
FAM234B family with sequence similarity 234 member B [Homo sapiens]
FAM234B family with sequence similarity 234 member B [Homo sapiens]Gene ID:57613Gene
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024