NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter) AND Zellweger spectrum disorders
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001213658.6
Allele description [Variation Report for NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter)]
NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter)
Condition(s)
-
Palate fistula
Palate fistulaMedGen
-
C2032780[conceptid] (1)
MedGen
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024