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MLH1 (mutL homolog 1)
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Curator:
Instituto Nacional del Cancer
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All individuals with variants in gene MLH1
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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.
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Example
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Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
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|
Text
Arg|Ser
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!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
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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'
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147 entries on 2 pages. Showing entries 1 - 100.
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Individual ID
Ethnic origin
Reference
Remarks
Cuadro familiar
Disease
Phenotype details
Variants
Panel size
Owner
00000054
Italian
-
-
-
-
-
1
1
Luisina Bruno-Instituto Fleming
00000133
European
-
-
-
-
-
8
1
Alejandra Mampel-Hospital Universitario de Mendoza
00000149
Spanish-Italian
-
-
-
--
-
6
1
Pablo Kalfayan-Hospital Italiano
00000153
Italian
-
-
-
-
-
6
1
Maria Laura Gonzalez-Hospital Italiano
00000158
Spanish-Italian
-
-
-
-
-
7
1
Maria Laura Gonzalez-Hospital Italiano
00000159
Spanish-Italian
-
-
-
Healthy/Control
-
4
1
Maria Laura Gonzalez-Hospital Italiano
00000219
Spanish-Italian
-
-
-
--
-
1
1
Carlos Vaccaro-Hospital Italiano
00000224
Spanish
-
-
-
--
-
1
1
Carlos Vaccaro-Hospital Italiano
00000245
Spanish
-
-
-
-
-
1
1
Vanesa Lotersztein-Genesia/Progenitest
00000285
Russian-Italian
-
-
-
-
-
1
1
Carlos Vaccaro-Hospital Italiano
00000291
Spanish
-
-
-
-
-
1
1
Vanesa Lotersztein-Genesia/Progenitest
00000292
Spanish
-
-
-
-
-
1
1
Vanesa Lotersztein-Genesia/Progenitest
00000295
Spanish-Venezuelan
-
-
-
-
-
7
1
Pablo Kalfayan-Hospital Italiano
00000297
Italian
-
-
-
--
-
5
1
Carlos Vaccaro-Hospital Italiano
00000312
Argentinian
-
-
Colon cancer
Colon cancer
-
9
1
Lina Nuñez-Private Practice
00000313
Ashkenazi
-
-
-
-
-
1
1
Pablo Kalfayan-Hospital Italiano
00000325
Ashkenazi
-
-
-
--
-
2
1
Pablo Kalfayan-Hospital Italiano
00000401
Caucasian
-
-
-
-
-
1
1
Gonzalo Tabares-CEMA
00000419
Spanish-Italian
-
-
-
--
-
1
1
Gonzalo Tabares-CEMA
00000428
Spanish
-
-
Lynch syndrome
Endometrial cancer
-
1
1
Jesica Ramirez-Hospital Central de Mendoza
00000433
Italian-Spanish
-
-
-
-
-
1
1
Vanesa Lotersztein-Genesia/Progenitest
00000467
Italian-French-Bolivian
-
-
-
--
-
8
1
Florencia Petracchi-CEMIC
00000498
Spanish
-
-
-
-
-
7
1
Jose Llugdar-Instituto Oulton
00000510
Italian
-
-
-
-
-
7
1
Carlos Vaccaro-Hospital Italiano
00000534
Italian-Spanish-English
-
-
-
--
-
6
1
Pablo Kalfayan-Hospital Italiano
00000540
Spanish-Italian
-
-
-
-
-
1
1
Rita Valdez-Hospital Alemán
00000557
Spanish-Basque
-
-
Colon cancer
Colon cancer
-
7
1
Lina Nuñez-Hospital Alemán
00000606
Unknown
-
-
-
-
-
2
1
Florencia Petracchi-CEMIC
00000621
Italian
-
-
-
-
-
1
1
Pablo Kalfayan-CEMIC
00000648
Spanish
-
-
-
-
-
1
1
Jose Llugdar-Clínica Reina Fabiola
00000696
Spanish
-
-
-
-
-
8
1
Carlos Vaccaro-Hospital Italiano
00000731
Unknown
-
-
Colon cancer
Colon cancer
-
1
1
Lina Nuñez-Hospital Alemán
00000732
Italian-Argentinian
-
-
Colon cancer
N/A
-
1
1
Lina Nuñez-Private Practice
00000733
Italian
-
-
Breast cancer, Colon cancer
Colon cancer
-
1
1
Lina Nuñez-Private Practice
00000772
Spanish
-
-
Breast cancer, Ovarian cancer
Breast cancer, Ovarian cancer
-
1
1
Norma Rossi-Hospital de Córdoba
00000784
Spanish-Arab
-
-
-
-
-
9
1
Florencia Petracchi-CEMIC
00000785
Spanish-Japanese
-
-
-
-
-
3
1
Florencia Petracchi-CEMIC
00000787
Spanish-Italian
-
CIA (antec pnales/explica cuadro clínico?)
Colon cancer
Colon cancer
-
3
1
Lina Nuñez-Hospital Alemán
00000788
Spanish-Italian-Portuguese
-
-
-
-
-
1
1
Pablo Kalfayan-CEMIC
00000798
Spanish
-
-
-
-
-
1
1
Laura Vargas Roig-IMBECU
00000833
German-Basque
-
(antec ambos/explica cuadro)
Breast cancer
Breast cancer
-
1
1
Lina Nuñez-Hospital Alemán
00000839
Spanish
-
-
-
--
-
2
1
Laura Vargas Roig-IMBECU
00000868
Italian
-
-
-
-
-
6
1
Pablo Kalfayan-Hospital Italiano
00000880
Native Argentinian
-
-
-
--
-
1
1
Cecilia Montes-IMGO
00000883
Native American
-
-
-
--
-
1
1
Cecilia Montes-IMGO
00000884
Spanish
-
-
Colorectal cancer
N/A
-
2
1
Pablo Kalfayan-Hospital Italiano
00000899
Italian
-
-
-
-
-
1
1
Laura Vargas Roig-IMBECU
00000993
Not available
-
(explica cuadro)
-
-
-
1
1
Marina Antelo-Hospital Udaondo
00000994
Not available
-
MF (explica cuadro)
-
-
-
1
1
Marina Antelo-Hospital Udaondo
00000995
Not available
-
MF (explica cuadro)
-
-
-
1
1
Marina Antelo-Hospital Udaondo
00000996
Not available
-
MF (explica cuadro)
-
-
-
1
1
Marina Antelo-Hospital Udaondo
00000997
Not available
-
CIA (antec ambos/explica cuadro)
-
-
-
1
1
Marina Antelo-Hospital Udaondo
00000998
Not available
-
CIA (antec ambos/explica cuadro)
-
-
-
2
1
Marina Antelo-Hospital Udaondo
00001001
Not available
-
CIA (antec ambos/explica cuadro)
-
-
-
1
1
Marina Antelo-Hospital Udaondo
00001002
Not available
-
MF (explica cuadro)
-
-
-
1
1
Marina Antelo-Hospital Udaondo
00001003
Not available
-
CIA (antec ambos/explica cuadro)
-
-
-
1
1
Marina Antelo-Hospital Udaondo
00001004
Not available
-
MF (explica cuadro)
-
-
-
1
1
Marina Antelo-Hospital Udaondo
00001005
Not available
-
MF (explica cuadro)
-
-
-
1
1
Marina Antelo-Hospital Udaondo
00001019
Spanish-Italian
-
-
-
-
-
1
1
Maria Laura Gonzalez-Hospital Italiano
00001021
Spanish-Italian-French-Amerindian
-
CII (explica cuadro)
-
--
-
1
1
Carlos Vaccaro-Hospital Italiano
00001029
Not available
-
CIA (antec ambos/explica cuadro)
-
-
-
1
1
Marina Antelo-Hospital Udaondo
00001031
Not available
-
CIA (antec personales/explica cuadro)
-
-
-
1
1
Marina Antelo-Hospital Udaondo
00001032
Not available
-
MF (explica cuadro)
-
-
-
1
1
Marina Antelo-Hospital Udaondo
00001033
Not available
-
MF (explica cuadro)
-
-
-
1
1
Marina Antelo-Hospital Udaondo
00001034
Not available
-
CIA (antec ambos/explica cuadro)
-
-
-
1
1
Marina Antelo-Hospital Udaondo
00001035
Not available
-
MF (explica cuadro)
-
-
-
1
1
Marina Antelo-Hospital Udaondo
00001039
Not available
-
MF (explica cuadro)
-
-
-
1
1
Marina Antelo-Hospital Udaondo
00001041
Argentinian
-
CIA (antec ambos/explica cuadro)
-
-
-
1
1
Maria Laura Gonzalez-Hospital Italiano
00001043
Italian
-
CIA (antec ambos/explica cuadro)
-
-
-
1
1
Maria Laura Gonzalez-Hospital Italiano
00001044
Italian
-
MF (explica cuadro)
-
--
-
1
1
Carlos Vaccaro-Hospital Italiano
00001045
Italian
-
MF (explica cuadro)
-
-
-
1
1
Carlos Vaccaro-Hospital Italiano
00001055
Caucasian
-
-
-
-
-
1
1
Erika Stegmayer-Hospital Zenon Santillan
00001058
Spanish
-
(antec ambos/explica cuadro)
Colon cancer
Colon cancer
-
1
1
Jesica Ramirez-Hospital Central de Mendoza
00001084
Not available
-
-
-
-
-
2
1
Marina Antelo-Hospital Udaondo
00001091
Not available
-
-
-
-
-
1
1
Marina Antelo-Hospital Udaondo
00001115
Spanish
-
-
-
--
-
1
1
Maria Laura Gonzalez-Hospital Italiano
00001116
Spanish-French
-
-
-
--
-
1
1
Maria Laura Gonzalez-Hospital Italiano
00001118
Spanish
-
-
-
-
-
2
1
Carlos Vaccaro-Hospital Italiano
00001119
Italian
-
-
-
-
-
2
1
Carlos Vaccaro-Hospital Italiano
00001157
Basque
-
-
Breast cancer
Breast cancer
-
1
1
Norma Rossi-Hospital de Córdoba
00001172
Italian
-
-
-
-
-
1
1
Pablo Kalfayan-Hospital Italiano
00001178
Spanish
-
(antec ambos/explica cuadro)
-
-
-
3
1
Pablo Kalfayan-Hospital Italiano
00001214
Spanish-Italian
-
-
-
--
-
1
1
Maria Laura Gonzalez-Hospital Italiano
00001252
Italian
-
-
Breast cancer, Colon cancer, Ovarian cancer, Pancreatic cancer
Pancreatic cancer
-
1
1
Lina Nuñez-Private Practice
00001281
Spanish-Italian
-
-
Pancreatic cancer
Breast cancer
-
1
1
Silvina Sisterna-Hospital de Comunidad
00001282
Spanish-Lebanese
-
-
Breast cancer, Pancreatic cancer
N/A
-
1
1
Silvina Sisterna-Hospital de Comunidad
00001284
Spanish-Italian
-
-
-
-
-
1
1
Silvina Sisterna-Hospital de Comunidad
00001295
Italian-Spanish
-
-
-
-
-
1
1
Silvina Sisterna-Hospital de Comunidad
00001296
Spanish-Italian
-
-
Breast cancer, Kidney cancer
Breast cancer, Kidney cancer
-
1
1
Silvina Sisterna-Hospital de Comunidad
00001297
Spanish-Italian
-
-
-
-
-
1
1
Silvina Sisterna-Hospital de Comunidad
00001299
Spanish-Italian
-
-
-
-
-
1
1
Silvina Sisterna-Hospital de Comunidad
00001351
Spanish
-
-
-
-
-
1
1
Dolores Mansilla-Instituto Roffo
00001363
Spanish-Itailian
-
-
-
--
-
2
1
Maria Laura Gonzalez-Hospital Italiano
00001422
Belgian-Polish-Spanish
-
-
-
-
-
1
1
Silvina Sisterna-Hospital de Comunidad
00001447
Unknown
-
-
-
-
-
2
1
Laura Vargas Roig-IMBECU
00001491
Caucasian
-
-
-
-
-
1
1
Erika Stegmayer-CIOC
00001495
Italian-Basque-French
-
-
-
-
-
2
1
Silvina Sisterna-Hospital de Comunidad
00001497
Italian-Spanish
-
-
-
-
-
1
1
Silvina Sisterna-Hospital de Comunidad
00001498
Italian-Spanis-Ashkenazi
-
-
-
-
-
1
1
Silvina Sisterna-Hospital de Comunidad
00001499
Italian
-
-
-
-
-
2
1
Silvina Sisterna-Hospital de Comunidad
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