NM_001110792.2(MECP2):c.400G>A (p.Val134Met) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 9, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000254852.2
Allele description [Variation Report for NM_001110792.2(MECP2):c.400G>A (p.Val134Met)]
NM_001110792.2(MECP2):c.400G>A (p.Val134Met)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Aug 4, 2024