NM_000318.3(PEX2):c.288G>A (p.Gln96=) AND PEX2-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003925846.1
Allele description [Variation Report for NM_000318.3(PEX2):c.288G>A (p.Gln96=)]
NM_000318.3(PEX2):c.288G>A (p.Gln96=)
Condition(s)
- Name:
- PEX2-related disorder
- Synonyms:
- PEX2-related condition
- Identifiers:
-
Taxonomy Links for Gene (Select 443900) (1)
Taxonomy
-
ABC transporter ATP-binding protein [Clostridium tetani]
ABC transporter ATP-binding protein [Clostridium tetani]gi|499413361|ref|WP_011100828.1|Protein
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See more...Assertion and evidence details
Last Updated: May 19, 2024