NM_001085411.3(NADK2):c.749G>C (p.Arg250Thr) AND Progressive encephalopathy with leukodystrophy due to DECR deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 9, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001866339.3
Allele description [Variation Report for NM_001085411.3(NADK2):c.749G>C (p.Arg250Thr)]
NM_001085411.3(NADK2):c.749G>C (p.Arg250Thr)
Condition(s)
-
eggc.vipfc5 (0)
BioProject
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 1, 2024