NM_001101362.3(KBTBD13):c.729C>G (p.Ser243Arg) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003279026.2
Allele description [Variation Report for NM_001101362.3(KBTBD13):c.729C>G (p.Ser243Arg)]
NM_001101362.3(KBTBD13):c.729C>G (p.Ser243Arg)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
unnamed protein product [Homo sapiens]
unnamed protein product [Homo sapiens]gi|158259507|dbj|BAF85712.1|Protein
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Last Updated: May 1, 2024