NM_006009.4(TUBA1A):c.424G>A (p.Gly142Ser) 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:
- RCV000767523.2
Allele description [Variation Report for NM_006009.4(TUBA1A):c.424G>A (p.Gly142Ser)]
NM_006009.4(TUBA1A):c.424G>A (p.Gly142Ser)
Condition(s)
- Name:
- Tubulinopathy
- Synonyms:
- Tubulinopathies
- Identifiers:
- MONDO: MONDO:0100153; MedGen: CN850169
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PREDICTED: Lipotes vexillifer alkB, alkylation repair homolog 6 (E. coli) (ALKBH...
PREDICTED: Lipotes vexillifer alkB, alkylation repair homolog 6 (E. coli) (ALKBH6), transcript variant X2, mRNAgi|602721870|ref|XM_007471022.1|Nucleotide
-
atp-binding cassette sub-family b member mitochondrial [Nannochloropsis gaditana...
atp-binding cassette sub-family b member mitochondrial [Nannochloropsis gaditana]gi|585109170|gb|EWM27000.1||gnl|WGS |Naga_100079g4.10189Protein
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Last Updated: Jun 23, 2024