NM_005188.4(CBL):c.2484G>A (p.Pro828=) AND Noonan syndrome and Noonan-related syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 12, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001813232.4
Allele description [Variation Report for NM_005188.4(CBL):c.2484G>A (p.Pro828=)]
NM_005188.4(CBL):c.2484G>A (p.Pro828=)
Condition(s)
-
Familial temporal lobe epilepsy 2
Familial temporal lobe epilepsy 2MedGen
-
Pachygyria-intellectual disability-epilepsy syndrome
Pachygyria-intellectual disability-epilepsy syndromeMedGen
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024