Online Submission of Your Mutation Data |
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1. Species |
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(e.g. human,mouse or other species) |
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| 2. Gene Symbol |
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(e.g.HPS1,Dtnbp1) |
3. Reference sequence
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(GeneBank accession number) |
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4. Location
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Extron
Intron
5'-UTR
3'-UTR
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5. Modecular changes |
| (Mutation nomenclature guidelines from http://www.hgvs.org/mutnomen/ cDNA numbering is started from the start codon.) |
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i) Genomic
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(e.g. 320G>T, 288delG, splicing donor +2T>A)
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ii) cDNA |
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(e.g. 320G>T, 288delG) |
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iii) Protein |
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(e.g. A75D, R131X)
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6. Mutation type |
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(e.g. missense, nonsense, frameshift,splicing) |
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7. Ethnicity or Strain |
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(e.g. Caucasian, Chinese, C57BL/6J) |
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8. Reference |
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9. Submitter |
(Name & Title) |
(Affiliation & Address) |
10. Comments |
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| (genotype-phenotype correlation, diagnostic relevance, clinical implications, etc.)
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