NM_006009.4(TUBA1A):c.188C>T (p.Pro63Leu) AND TUBA1A-associated tubulinopathy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001843839.1
Allele description [Variation Report for NM_006009.4(TUBA1A):c.188C>T (p.Pro63Leu)]
NM_006009.4(TUBA1A):c.188C>T (p.Pro63Leu)
Condition(s)
- Name:
- TUBA1A-associated tubulinopathy
- Identifiers:
Assertion and evidence details
Last Updated: Sep 29, 2024