NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr) AND Inborn genetic diseases
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 22, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000624409.2
Allele description [Variation Report for NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr)]
NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Jan 7, 2023