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.
g-position: Variation at DNA level according to GenBank accession number L11910 (NCBI Genbank)
cDNA change: Variation at DNA level.
Type: Type of variant at DNA level.
Exon: Exon numbering.
RNA change: Effect of change on RNA.
Protein: Predicted effect of change on protein (usually without experimental proof!)
expected consequence type: expected consequence type at protein level, e.g. frameshift, missense
RB1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.
originated_in: data on the cell of origin, either germline or somatic (mosaic mutations are of somatic origin)
Patient ID: Internal reference to the patient, such as an hospital patient id.
Phenotype: Disease phenotype of the patient(s). rb = retinoblastoma
Mut. origin: Origin of mutation
Tissue: Tissue type in which the sequence variant was detected.
Template: Variant detected in DNA, RNA and/or Protein.
tumor-genotype: Genotype of the tumor cells like homozygous, heterozygous, LOH
family history: Occurrence of the tumor in the family: familial= another family member suffers from the tumor, low penetrance= unaffected carriers with the same mutation, sporadic= first occurence of the tumor (de novo or somatic)
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.
# Reported: Number of times this case has been reported
Published: Patient data is published in a paper