NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp) AND Complex neurodevelopmental disorder
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003315351.3
Allele description [Variation Report for NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)]
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
Condition(s)
- Name:
- Complex neurodevelopmental disorder
- Identifiers:
- MONDO: MONDO:0100038; MedGen: C5568766
-
4-hydroxybenzoyl-CoA thioesterase [Haliangium ochraceum DSM 14365]
4-hydroxybenzoyl-CoA thioesterase [Haliangium ochraceum DSM 14365]gi|262077353|gnl|jgi|Hoch_0692|gb|A 22.1|Protein
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Last Updated: Sep 29, 2024