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. Exon: Exon numbering. DNA change: Variation at DNA level. RNA change: Effect of change on RNA. = = RNA change identical to DNA change ? = unknown (=) = no significant effect expected (but no experimental proof) (0) = change expected to abolish transcription (ex4ex5del) = probably deletion of exons 4 to 5 (ex4ex5dup) = probably duplication of exons 4 to 5 +cry = activation of cryptic splice site (no sequence published) spl? = effect on splicing very likely (no experimental proof), examples; splice donor site change (nucleotides +1 to +5 affected) splice acceptor site change (nucleotides -2 to -1 affected) new intronic AG splice acceptor di-nucleotide created close to (within 15 nucleotides) of normal splice acceptor site (spl?) = might affect splicing (no experimental proof), examples; change affects first or last nucleotide of exon change creates strong splice donor or splice acceptor site in exon 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) Frequency: Frequency of polymorphism reported listed as number of variant alleles/number of control alleles tested, like 5/132. RPS7 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Location: Variant location at DNA level. Default is exon 5' Gene flanking 5' UTR Exon Intron 3' UTR 3' Gene flanking Remarks: Description of the variant Molecula Mechanisms: Molecular mechanisms slippage transversion transition CpG Patient ID: Internal reference to the patient, such as an hospital patient id. Gender: Patient gender f = Female m = Male na = Not Available Malformations: Malformations associated to the allelic variant. Growth Retardation: Growth retardation. na = not available no yes Steroid Response: Response to steroid treatment. Complications: Medical complications, malignancies Variant Origin: Variant origin = origin of variant allele, e.g. sporadic (no affected relatives besides brother/sister), de novo, familial (other affecteds besides brother/sister), consanguineous parents, etc. ? (unknown) in vitro (cloned) familial familial, consanguineous parents familial, autosomal dominant familial, autosomal recessive familial, X-linked sporadic sporadic, consanguineous parents sporadic, consanguineous parents (1st degree) sporadic, consanguineous parents (2nd degree) sporadic, consanguineous parents (3rd degree) sporadic, non-consanguineous parents sporadic, consanguinity parents? sporadic? (parents not tested) uniparental disomy de novo de novo, somatic mosaicism de novo, germline mosaicism de novo, germline and somatic mosaicism de novo, in patient de novo, in patient (maternal allele) de novo, in patient (paternal allele) de novo, in mother de novo, in mother (grandmaternal allele) de novo, in mother (grandpaternal allele) de novo, in father de novo, in father (grandmaternal allele) de novo, in father (grandpaternal allele) uniparental disomy, maternal allele uniparental disomy, paternal allele 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. Template: Variant detected in DNA, RNA and/or Protein. DNA RNA Protein Technique: Technique used to reveal the change reported. For all methods, confirmation by sequencing (SEQ) is included. Select SEQ only when none of other techniques was used. BESS = Base Excision Sequence Scanning CMC = Chemical Mismatch Cleavage DGGE = Denaturing-Gradient Gel-Electrophoresis DHPLC = Denaturing High-Performance Liquid Chromatography DOVAM = Detection Of Virtually All Mutations (SSCA variant) DSCA = Double-Strand DNA Conformation Analysis FISH = Fluorescent In Situ Hybridization HD = HeteroDuplex analysis IHC = Immuno-Histo-Chemistry Kar = Karyotype mPCR = multiplex PCR MAPH = Multiplex Amplifiable Probe Hybridisation MLPA = Multiplex Ligation-dependent Probe Amplification PAGE = Poly-Acrylamide Gel-Electrophoresis PCR = Polymerase Chain Reaction PTT = Protein Truncation Test RT-PCR = Reverse Transcription and PCR SEQ = SEQuencing Southern = Southern Blotting SSCA = Single-Strand DNA Conformation Analysis (SSCP) STR = Microsatellite Analysis Western = Western Blotting # Reported: Number of times this case has been reported