NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn) AND Lissencephaly due to TUBA1A mutation
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001262357.1
Allele description [Variation Report for NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn)]
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn)
Condition(s)
-
Defensin-like (DEFL) family protein [Arabidopsis thaliana]
Defensin-like (DEFL) family protein [Arabidopsis thaliana]gi|79325067|ref|NP_001031618.1|Protein
-
Mus musculus adenine nucleotide translocase lysine methyltransferase (Antkmt), t...
Mus musculus adenine nucleotide translocase lysine methyltransferase (Antkmt), transcript variant 2, mRNAgi|553726988|ref|NM_001285982.1|Nucleotide
-
Homo sapiens cDNA clone IMAGE:4811412
Homo sapiens cDNA clone IMAGE:4811412gi|26454707|gb|BC040985.1|Nucleotide
-
Homo sapiens cell adhesion molecule 2, mRNA (cDNA clone MGC:104534 IMAGE:5259422...
Homo sapiens cell adhesion molecule 2, mRNA (cDNA clone MGC:104534 IMAGE:5259422), complete cdsgi|77415338|gb|BC105999.1|Nucleotide
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Last Updated: Oct 13, 2024