NM_020631.6(PLEKHG5):c.369C>A (p.Asp123Glu) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 8, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002352999.2
Allele description [Variation Report for NM_020631.6(PLEKHG5):c.369C>A (p.Asp123Glu)]
NM_020631.6(PLEKHG5):c.369C>A (p.Asp123Glu)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Homo sapiens mRNA; cDNA DKFZp434N021 (from clone DKFZp434N021)
Homo sapiens mRNA; cDNA DKFZp434N021 (from clone DKFZp434N021)gi|5817198|emb|AL110248.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 1, 2024