NM_000288.4(PEX7):c.538C>A (p.Leu180Met) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003168022.2
Allele description [Variation Report for NM_000288.4(PEX7):c.538C>A (p.Leu180Met)]
NM_000288.4(PEX7):c.538C>A (p.Leu180Met)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
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Rattus norvegicus ubiquitin-conjugating enzyme E2E 2 (UBC4/5 homolog, yeast), mR...
Rattus norvegicus ubiquitin-conjugating enzyme E2E 2 (UBC4/5 homolog, yeast), mRNA (cDNA clone IMAGE:7127579), partial cdsgi|50925720|gb|BC079134.1|Nucleotide
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Homo sapiens cDNA clone IMAGE:2958041
Homo sapiens cDNA clone IMAGE:2958041gi|14712195|gb|BC007217.1|Nucleotide
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Last Updated: May 1, 2024