NM_052876.4(NACC1):c.1003C>T (p.Arg335Trp) AND Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003134201.3
Allele description [Variation Report for NM_052876.4(NACC1):c.1003C>T (p.Arg335Trp)]
NM_052876.4(NACC1):c.1003C>T (p.Arg335Trp)
Condition(s)
-
Chain e, Proteasome subunit beta type-6
Chain e, Proteasome subunit beta type-6gi|1938941405|pdb|6J2Q|eProtein
-
Chain a, Proteasome subunit beta type-7
Chain a, Proteasome subunit beta type-7gi|1938941406|pdb|6J2Q|aProtein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024