NM_000466.3(PEX1):c.144A>C (p.Glu48Asp) AND Zellweger spectrum disorders
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 31, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001245629.8
Allele description [Variation Report for NM_000466.3(PEX1):c.144A>C (p.Glu48Asp)]
NM_000466.3(PEX1):c.144A>C (p.Glu48Asp)
Condition(s)
-
Putative sugar uptake ABC transporter periplasmic solute-binding protein precurs...
Putative sugar uptake ABC transporter periplasmic solute-binding protein precursor (plasmid) [Sinorhizobium meliloti 2011]gi|459645393|gnl|LIPM|SM2011_b20720 GG72438.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024