NM_002397.5(MEF2C):c.19C>T (p.Gln7Ter) AND MEF2C Haploinsufficiency Syndrome
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003335912.1
Allele description [Variation Report for NM_002397.5(MEF2C):c.19C>T (p.Gln7Ter)]
NM_002397.5(MEF2C):c.19C>T (p.Gln7Ter)
Condition(s)
- Name:
- MEF2C Haploinsufficiency Syndrome
- Identifiers:
Assertion and evidence details
Last Updated: May 16, 2025