NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile) AND PIK3CA related overgrowth syndrome
- Germline classification:
- Pathogenic (2 submissions)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000201236.2
Allele description [Variation Report for NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile)]
NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile)
Condition(s)
- Name:
- PIK3CA related overgrowth syndrome
- Synonyms:
- PIK3CA related overgrowth spectrum; PIK3CA-associated segmental overgrowth; PIK3CA-Related Segmental Overgrowth
- Identifiers:
- MONDO: MONDO:1040002; MedGen: C4728213
Assertion and evidence details
Last Updated: Sep 29, 2024