NM_002055.5(GFAP):c.1046A>C (p.Tyr349Ser) AND Scoliosis
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 5, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000415341.1
Allele description
NM_002055.5(GFAP):c.1046A>C (p.Tyr349Ser)
Condition(s)
- Name:
- Scoliosis
- Identifiers:
- MONDO: MONDO:0005392; MedGen: C0036439; Human Phenotype Ontology: HP:0002650
Assertion and evidence details
Last Updated: Apr 23, 2022