NM_006009.4(TUBA1A):c.467G>A (p.Arg156His) AND Congenital fibrosis of extraocular muscles
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 25, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001270022.2
Allele description [Variation Report for NM_006009.4(TUBA1A):c.467G>A (p.Arg156His)]
NM_006009.4(TUBA1A):c.467G>A (p.Arg156His)
Condition(s)
- Name:
- Congenital fibrosis of extraocular muscles
- Identifiers:
- MONDO: MONDO:0007614; MedGen: C1302995; OMIM: PS135700; Human Phenotype Ontology: HP:0001491
Assertion and evidence details
Last Updated: Oct 8, 2024