NM_133433.4(NIPBL):c.2436G>C (p.Glu812Asp) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002722493.2
Allele description [Variation Report for NM_133433.4(NIPBL):c.2436G>C (p.Glu812Asp)]
NM_133433.4(NIPBL):c.2436G>C (p.Glu812Asp)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
protein Wnt-7a precursor [Homo sapiens]
protein Wnt-7a precursor [Homo sapiens]gi|17505191|ref|NP_004616.2|Protein
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See more...Assertion and evidence details
Last Updated: May 1, 2024