NM_001370658.1(BTD):c.1386dup (p.Glu463Ter) AND Biotinidase deficiency
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 1, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002466295.1
Allele description [Variation Report for NM_001370658.1(BTD):c.1386dup (p.Glu463Ter)]
NM_001370658.1(BTD):c.1386dup (p.Glu463Ter)
Condition(s)
Assertion and evidence details
Last Updated: Mar 26, 2023