NM_000466.3(PEX1):c.3592del (p.Ala1198fs) AND Zellweger spectrum disorders
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003046737.3
Allele description [Variation Report for NM_000466.3(PEX1):c.3592del (p.Ala1198fs)]
NM_000466.3(PEX1):c.3592del (p.Ala1198fs)
Condition(s)
-
C-terminal-binding protein 2a isoform X1 [Hemiscyllium ocellatum]
C-terminal-binding protein 2a isoform X1 [Hemiscyllium ocellatum]gi|2618607412|ref|XP_060697988.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024