Online Submission of Your Mutation Data
1. Species
(e.g. human,mouse or other species)

2. Gene Symbol


3. Reference sequence

(GeneBank accession number)

4. Location

Extron Intron 5'-UTR 3'-UTR

5. Modecular changes

(Mutation nomenclature guidelines from cDNA numbering is started from the start codon.)

    i) Genomic

(e.g. 320G>T, 288delG, splicing donor +2T>A)
   ii) cDNA
(e.g. 320G>T, 288delG)
   iii) Protein
(e.g. A75D, R131X)
6. Mutation type
(e.g. missense, nonsense, frameshift,splicing)
7. Ethnicity or Strain
(e.g. Caucasian, Chinese, C57BL/6J)
8. Reference
9. Submitter
(Name & Title)
(Affiliation & Address)
(genotype-phenotype correlation, diagnostic relevance, clinical implications, etc.)