Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Reference: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.
Gender: The gender of the reported individual.
All options:
- ? = Unknown
- F = Female
- M = Male
- rF = Raised as female
- rM = Raised as male
Geographic origin: The geographic origin of the individual (country and/or region); Belgium = individual's origin is Belgium, (France) = reported by laboratory in France, individual's origin not sure.
Geographic origin: The second geographic origin of the individual (when parents are from different regions) (country and/or region); Belgium = individual's origin is Belgium, (France) = reported by laboratory in France, individual's origin not sure.
Population: Additional information on the individual's population.
Consanguinity: Indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
- ? = Unknown
- no = Non-consanguineous parents
- yes = Consanguineous parents
Remarks: Remarks about the individual.
Variants in genes: The individual has variants for this gene.
Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.
|
Legend |
Individual ID
|
Reference
|
Gender
|
Geographic origin
|
Geographic origin
|
Population
|
Consanguinity
|
Remarks
|
Disease
|
Phenotype details
|
Genes screened
|
Variants in genes
|
Variants
|
Panel size
|
Owner
|
00020954 |
- |
F |
Ano Diminio, Corinthia |
Rizomylos, Aigio |
Greek |
no |
- |
HMGM, MenDis, MNGM, NDL, SIPol, TRC |
- |
- |
APC, BMPR1A, BRCA1, DIS3L2, EGFR, EPCAM, ERCC4, KIT, MLH1, SMAD4, TP53 |
17 |
1 |
Despoina Kalfakakou |
|
Legend |