NM_001085411.3(NADK2):c.1310C>T (p.Thr437Ile) AND Progressive encephalopathy with leukodystrophy due to DECR deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002038693.3
Allele description [Variation Report for NM_001085411.3(NADK2):c.1310C>T (p.Thr437Ile)]
NM_001085411.3(NADK2):c.1310C>T (p.Thr437Ile)
Condition(s)
Assertion and evidence details
Last Updated: Mar 5, 2024