NM_007198.4(PLPBP):c.137G>A (p.Ser46Asn) AND Epilepsy, early-onset, vitamin B6-dependent
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 9, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001328599.2
Allele description [Variation Report for NM_007198.4(PLPBP):c.137G>A (p.Ser46Asn)]
NM_007198.4(PLPBP):c.137G>A (p.Ser46Asn)
Condition(s)
Assertion and evidence details
Last Updated: Aug 19, 2023