Sequence variations are described basically as recommended by the Ad-Hoc Nomenclature Committee of the Human Genome Variation Society (HGVS). For the most recent recommendations see the HGVS "Nomenclature for the description of sequence variants" web page. The most recent publication on the subject is by den Dunnen JT & Antonarakis SE (2000), Hum.Mut. 15: 7-12. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1. NOTE: in all cases, unless indicated otherwise, all data of an entry are as reported by the author(s)/submitter. Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. DNA change: Variation at DNA-level to coding DNA Reference Sequence. ex: c.7C>T, c.-15T>A, c.77+1G>A, 78-1G>A, c.*2T>A See Recommendations for the description of DNA sequence variants Protein: Predicted effect of change on protein (usually without experimental proof!) ? = unknown (0) = change expected to abolish translation ?fs = frame shift, but observed phenotype does not fit with prediction (for instance less severe phenotype (BMD) observed, more severe phenotype (DMD) expected) ?no fs = frame shift, but observed phenotype does not fit with prediction (for instance more severe phenotype (DMD) observed, less severe phenotype (BMD) expected) del = causes deletion fs = causes frame shift fs? = effect on reading frame very likely (no experimental proof) (fs?) = might affect the reading frame (no experimental proof) no fs = does not cause frame shift X = stop codon (nonsense) See HGVS 2010 Recommendations for the description of protein sequence variants dbSNP ID: If there is entry in dbSNP (http://www.ncbi.nlm.nih.gov/projects/SNP/) provide rs# Race: Reference: Literature reference with possible link to publication in PubMed, dbSNP entry or other online resource. "Submitted:" indicates that the mutation was submitted directly to this database by the laboratory indicated. Ethnic origin: Ethnic origin of the patient Unknown Caucasian AfricanAmerican Mexican MiddleEastern Hispanic unknown