NM_006009.4(TUBA1A):c.596A>G (p.Asp199Gly) AND Tubulinopathy
- Germline classification:
- Likely 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:
- RCV000767507.2
Allele description [Variation Report for NM_006009.4(TUBA1A):c.596A>G (p.Asp199Gly)]
NM_006009.4(TUBA1A):c.596A>G (p.Asp199Gly)
Condition(s)
- Name:
- Tubulinopathy
- Synonyms:
- Tubulinopathies
- Identifiers:
- MONDO: MONDO:0100153; MedGen: CN850169
-
granule-bound starch synthase 1, partial [Elymus brachypodioides]
granule-bound starch synthase 1, partial [Elymus brachypodioides]gi|2805791719|gb|XGZ33535.1|Protein
-
granule-bound starch synthase 1, partial [Elymus pendulinus var. pendulinus]
granule-bound starch synthase 1, partial [Elymus pendulinus var. pendulinus]gi|2805791723|gb|XGZ33537.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Aug 4, 2024