NM_001904.4(CTNNB1):c.198G>A (p.Trp66Ter) AND Severe intellectual disability-progressive spastic diplegia syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 22, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001265460.1
Allele description [Variation Report for NM_001904.4(CTNNB1):c.198G>A (p.Trp66Ter)]
NM_001904.4(CTNNB1):c.198G>A (p.Trp66Ter)
Condition(s)
-
Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit [Rattus nor...
Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit [Rattus norvegicus]Gene ID:301117Gene
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Last Updated: Aug 5, 2023