NM_006009.4(TUBA1A):c.652G>T (p.Asp218Tyr) AND Tubulinopathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 1, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000767472.1
Allele description [Variation Report for NM_006009.4(TUBA1A):c.652G>T (p.Asp218Tyr)]
NM_006009.4(TUBA1A):c.652G>T (p.Asp218Tyr)
Condition(s)
- Name:
- Tubulinopathy
- Synonyms:
- Tubulinopathies
- Identifiers:
- MONDO: MONDO:0100153; MedGen: CN850169
Assertion and evidence details
Last Updated: Dec 17, 2022