NM_000466.3(PEX1):c.3453C>T (p.Leu1151=) AND Zellweger spectrum disorders
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003761112.2
Allele description [Variation Report for NM_000466.3(PEX1):c.3453C>T (p.Leu1151=)]
NM_000466.3(PEX1):c.3453C>T (p.Leu1151=)
Condition(s)
-
RecName: Full=fMet-Leu-Phe receptor; Short=fMLP receptor; AltName: Full=N-formyl...
RecName: Full=fMet-Leu-Phe receptor; Short=fMLP receptor; AltName: Full=N-formyl peptide receptor; Short=FPR; AltName: Full=N-formylpeptide chemoattractant receptorgi|288558848|sp|P21462.3|FPR1_HUMANProtein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024