NM_000466.3(PEX1):c.3530dup (p.Leu1177fs) AND Zellweger spectrum disorders
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 31, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003759878.2
Allele description [Variation Report for NM_000466.3(PEX1):c.3530dup (p.Leu1177fs)]
NM_000466.3(PEX1):c.3530dup (p.Leu1177fs)
Condition(s)
-
putative ATP-dependent DNA ligase [Methylacidiphilum kamchatkense Kam1]
putative ATP-dependent DNA ligase [Methylacidiphilum kamchatkense Kam1]gi|1708319576|gnl|PRJNA432521|kam1_ QDQ41270.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024