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.
Genomic Reference Sequence.
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.
External ID: Link(s) to variation databases.
DNA change: Variation at DNA level.
Type: Type of variant at DNA level.
Mutation effect: Mutation effect at protein or RNA level.
Protein: Predicted effect of change on protein (usually without experimental proof!)
PolyPhen 2: PolyPhen 2 prediction of variant effect
Frequency: Frequency of non pathogenic variant reported listed as number of variant alleles/number of control alleles tested, like 5/132.
TNFRSF10C DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.
Patient ID: Internal reference to the patient, such as an hospital patient id.
Disease: Disease phenotype of the patient(s).
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.
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.
Frequency: Frequency of polymorphism reported listed as number of variant alleles/number of control alleles tested, like 5/132.