NM_000318.3(PEX2):c.657G>C (p.Lys219Asn) AND Peroxisome biogenesis disorder 5A (Zellweger)
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001980463.4
Allele description [Variation Report for NM_000318.3(PEX2):c.657G>C (p.Lys219Asn)]
NM_000318.3(PEX2):c.657G>C (p.Lys219Asn)
Condition(s)
-
PREDICTED: Rattus norvegicus SOS Ras/Rho guanine nucleotide exchange factor 2 (S...
PREDICTED: Rattus norvegicus SOS Ras/Rho guanine nucleotide exchange factor 2 (Sos2), transcript variant X5, mRNAgi|2678953526|ref|XM_006240184.5|Nucleotide
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Last Updated: Sep 29, 2024