Mutation Details for c.580G>T
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Note: this mutation was submitted but not yet reviewed by our curator.
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cDNA Name
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c.580G>T
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Protein Name
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p.Gly194X
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Exon or Intron
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Other Details
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It was detected by Next Generation Sequencing and verified by Sanger Sequencing
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Contributors and Institutes
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| Palaiologou D, Lazaros L, Kanavakis E | - | Genesis Genoma Lab, Athens, Greece |
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Submitted Phenotype Details
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This mutation was identified in a non symptomatic female carrier. No other mutation was detected in the patient.
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Reference
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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