NM_001368894.2(PAX6):c.1179A>C (p.Thr393=) AND Anophthalmia-microphthalmia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000381110.5
Allele description [Variation Report for NM_001368894.2(PAX6):c.1179A>C (p.Thr393=)]
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=)
Condition(s)
-
unnamed protein product [Aspergillus oryzae RIB40]
unnamed protein product [Aspergillus oryzae RIB40]gi|1300558988|ref|XP_003190418.2|Protein
-
mitogen-activated protein kinase 4 isoform X1 [Equus caballus]
mitogen-activated protein kinase 4 isoform X1 [Equus caballus]gi|1333702797|ref|XP_023503583.1|Protein
-
Chain A, RING finger protein 126
Chain A, RING finger protein 126gi|168176990|pdb|2ECT|AProtein
-
Klebsiella pneumoniae inhibitor-resistant beta-lactamase (blaSHV-49) gene, compl...
Klebsiella pneumoniae inhibitor-resistant beta-lactamase (blaSHV-49) gene, complete cdsgi|46452173|gb|AY528718.1|Nucleotide
-
EST114360 Supt cells Homo sapiens cDNA 5' end, mRNA sequence
EST114360 Supt cells Homo sapiens cDNA 5' end, mRNA sequencegi|1951090|gnl|dbEST|940066|gb|AA29 1|Nucleotide
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Last Updated: Jun 17, 2024