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RAD50 (RAD50 double strand break repair protein)
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Curator:
Instituto Nacional del Cancer
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View all transcripts of gene RAD50
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View all variants affecting transcripts
View unique variants in gene RAD50
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Full data view for gene RAD50
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View all individuals with variants in gene RAD50
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View all diseases associated with gene RAD50
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View all screenings for gene RAD50
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All individuals with variants in gene RAD50
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.
Ethnic origin
: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).
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.
Remarks
: Remarks about the individual.
Cuadro familiar
: Principales canceres que motivan la sospecha clinica
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.
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
21 entries on 1 page. Showing entries 1 - 21.
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Legend
How to query
Individual ID
Ethnic origin
Reference
Remarks
Cuadro familiar
Disease
Phenotype details
Variants
Panel size
Owner
00001145
Not available
-
-
Breast cancer, Colon cancer, Prostate cancer
Breast cancer
-
1
1
Claudia Martin-Hospital de Córdoba
00001156
Spanish
-
-
Breast cancer, Ovarian cancer
Ovarian cancer
-
1
1
Norma Rossi-Hospital de Córdoba
00001243
Spanish-Italian-Argentinian
-
-
-
--
-
1
1
Cecilia Montes-IMGO
00001392
Italian-Argentinian
-
-
Breast cancer, Cholangiocarcinoma, Thyroid cancer
Thyroid cancer
-
1
1
Claudia Martin-Hospital de Córdoba
00001657
unknown
-
-
Breast cancer
Breast cancer
-
1
1
Silvina Sisterna-Hospital de Comunidad
00001660
Italian; Spanish
-
-
Colon cancer
N/A
-
2
1
Silvina Sisterna-Hospital de Comunidad
00001765
Italian
-
-
Breast cancer
Breast cancer
-
1
1
Claudia Martin-Hospital de Córdoba
00001796
French Basque; Portuguese
-
-
-
-
-
1
1
Laura Vargas Roig-IMBECU
00001816
Spanish
-
-
Breast cancer
Breast cancer
-
1
1
Claudia Martin-Hospital de Córdoba
00001835
Spanish; Portuguese
-
-
-
-
-
1
1
Pablo Kalfayan-Hospital Italiano
00002204
Unknown
-
-
Breast cancer
Breast cancer
-
1
1
Claudia Martin-Hospital de Córdoba
00002242
Argentinean-Argentinean
-
-
Breast cancer, Ovarian cancer
Breast cancer
-
1
1
Laura Vargas Roig-IMBECU
00002276
Jewish (non-ashkenazi)/Italian
-
-
Breast cancer, Prostate cancer
Breast cancer
-
1
1
Pablo Kalfayan-Hospital Italiano
00002391
Spanish/Argentinean - french/argentinean
-
-
Colon cancer, Pancreatic cancer, Prostate cancer
Colon cancer
-
1
1
Pablo Kalfayan - Consultorio Particular.
00002738
Italian
-
-
Breast cancer
Breast cancer
-
1
1
Guillermo Alberto-Instituto Fleming
00002754
English - Italian - French
-
-
Pancreatic cancer
Pancreatic cancer
-
1
1
Guillermo Alberto-Instituto Fleming
00002847
Italian
-
-
Breast cancer, Ovarian cancer
Breast cancer, Colon cancer, Multiple Myeloma
-
1
1
Guillermo Alberto-Instituto Fleming
00002904
jew (Ashkenazi)
-
-
Endometrial cancer
Endometrial cancer
-
1
1
Guillermo Alberto-Instituto Fleming
00003258
Argentinean/Spanish
-
-
Breast cancer
Breast cancer
-
1
1
Guillermo Alberto-Instituto Fleming
00003275
Argentinean-Spanish-French-Italian
-
-
Breast cancer, Central nervous system tumor, Gastric cancer, Ovarian cancer, Pancreatic cancer
Breast cancer, Ovarian cancer
-
1
1
Guillermo Alberto-Instituto Fleming
00003298
Italian/Argentinean
-
-
Breast cancer, Ovarian cancer
Breast cancer
-
1
1
Guillermo Alberto-Instituto Fleming
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