NM_000318.3(PEX2):c.577A>G (p.Arg193Gly) AND Peroxisome biogenesis disorder 5A (Zellweger)
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 17, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001903425.5
Allele description [Variation Report for NM_000318.3(PEX2):c.577A>G (p.Arg193Gly)]
NM_000318.3(PEX2):c.577A>G (p.Arg193Gly)
Condition(s)
-
601765265F1 NIH_MGC_53 Homo sapiens cDNA clone IMAGE:3997336 5', mRNA sequence
601765265F1 NIH_MGC_53 Homo sapiens cDNA clone IMAGE:3997336 5', mRNA sequencegi|10736603|gnl|dbEST|6316957|gb|BF 1.1|Nucleotide
-
Ndufb9 [Mastomys coucha]
Ndufb9 [Mastomys coucha]Gene ID:116082796Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024