NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 10, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001842964.9
Allele description [Variation Report for NM_002074.5(GNB1):c.229G>A (p.Gly77Ser)]
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser)
Condition(s)
- Name:
- Global developmental delay (DD)
- Identifiers:
- MedGen: C0557874; Human Phenotype Ontology: HP:0001263
- Name:
- Hypotonia
- Synonyms:
- Muscular hypotonia; poor muscle tone
- Identifiers:
- MedGen: C0026827; Human Phenotype Ontology: HP:0001252
Assertion and evidence details
Last Updated: Aug 25, 2024