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.
Ethnic origin: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).
Population: Additional information on the individual's population.
Remarks: Remarks about the individual.
Microattribution: An acknowledgment to data contributor to this database.
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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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' |
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When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
|
Legend |
How to query |
Individual ID
|
Reference
|
Gender
|
Geographic origin
|
Ethnic origin
|
Population
|
Remarks
|
Microattribution
|
Disease
|
Phenotype details
|
Genes screened
|
Variants in genes
|
Variants
|
Panel size
|
Owner
|
00000119 |
Rahimah Ahmad et al. (2013) |
? |
Malaysia |
Malay |
- |
Carriers |
- |
α-thalassaemia |
Carriers |
HBA1 |
HBA1 |
4 |
1 |
Nuur Athirah Binti Mohd Daud |
00000120 |
Rahimah Ahmad et al. (2013) |
? |
Malaysia |
Chinese |
- |
- |
- |
α-thalassaemia |
carriers |
HBA1 |
HBA1 |
1 |
1 |
Nuur Athirah Binti Mohd Daud |
00000121 |
Rahimah Ahmad et al. (2013) |
? |
Malaysia |
Chinese |
- |
- |
- |
α-thalassaemia |
Carriers |
HBA2 |
HBA2 |
3 |
1 |
Nuur Athirah Binti Mohd Daud |
00000122 |
Rahimah Ahmad et al. (2013) |
? |
Malaysia |
- |
Sabah |
- |
- |
α-thalassaemia |
Carriers |
HBA2 |
HBA2 |
2 |
1 |
Nuur Athirah Binti Mohd Daud |
00000123 |
Rahimah Ahmad et al. (2013) |
? |
Malaysia |
- |
Sarawak |
- |
- |
α-thalassaemia |
Carrier |
HBA2 |
BRCA2 |
1 |
1 |
Nuur Athirah Binti Mohd Daud |
00000124 |
Rahimah Ahmad et al. (2013) |
? |
Malaysia |
Orang Asli |
- |
- |
- |
α-thalassaemia |
Carriers |
HBA2 |
HBA2 |
2 |
1 |
Nuur Athirah Binti Mohd Daud |
00000125 |
Rahimah Ahmad et al. (2013) |
? |
Malaysia |
- |
- |
- |
- |
α-thalassaemia |
Carriers |
HBA2 |
HBA2 |
3 |
1 |
Nuur Athirah Binti Mohd Daud |
00000126 |
Rahimah Ahmad et al. (2013) |
? |
Malaysia |
- |
Sarawak |
- |
- |
α-thalassaemia |
Carriers |
HBA2 |
HBA2 |
1 |
1 |
Nuur Athirah Binti Mohd Daud |
00000580 |
T Y Lee et al.(2016) |
- |
Malaysia |
Malay |
- |
- |
- |
α-thalassaemia |
- |
HBA2 |
HBA2 |
1 |
1 |
Nur Aisyah Athirah |
00000642 |
Hafiza Alauddin et al.(2014) |
F |
Malaysian |
Malay |
- |
- |
- |
α-thalassaemia |
age: 11, has hepatosplenomegaly, developed cholelithiasis at the age of 8 years old, peripheral blood films showed hypochromic microcytic red cells with marked anisopoikilocytosis, polychromasia, basophilic stippling, target cells and occasional nucleated red blood cells |
HBA2 |
HBA2 |
2 |
1 |
Nur Aisyah Athirah |
00000643 |
Hafiza Alauddin et al.(2014) |
M |
Malaysia |
Malay |
- |
- |
- |
α-thalassaemia |
age: 9, has hepatosplenomegaly, peripheral blood films showed hypochromic microcytic red cells with marked anisopoikilocytosis, polychromasia, basophilic stippling, target cells and occasional nucleated red blood cells |
HBA2 |
HBA2 |
2 |
1 |
Nur Aisyah Athirah |
00000644 |
Hafiza Alauddin et al.(2014) |
M |
Malaysia |
Malay |
- |
- |
- |
α-thalassaemia |
age: 31, appeared pale and had splenomegaly, had a history of anemia and intermittent jaundice |
HBA2 |
HBA2 |
1 |
1 |
Nur Aisyah Athirah |
00000645 |
Hafiza Alauddin et al.(2014) |
M |
Malaysia |
Malay |
- |
- |
- |
α-thalassaemia |
age: 17, appeared pale and had splenomegaly, had a history of anemia and intermittent jaundice |
HBA2 |
HBA2 |
1 |
1 |
Nur Aisyah Athirah |
00000651 |
Hafiza Alauddin et al.(2018) |
M |
Malaysia |
- |
- |
- |
- |
α-thalassaemia |
- |
HBA2 |
HBA2 |
2 |
1 |
Nur Aisyah Athirah |
00000729 |
Jin Ai Mary Anne Tan et al.(2016) |
F |
Malaysia |
Malay |
- |
- |
- |
α-thalassaemia |
Alpha-thalassemia intermedia |
HBA2 |
HBA2 |
2 |
1 |
Nur Aisyah Athirah |
00000730 |
Jin Ai Mary Anne Tan et al.(2016) |
F |
Malaysia |
Malay |
- |
- |
- |
α-thalassaemia |
Severe alpha-thalassemia intermedia |
HBA2 |
HBA2 |
2 |
1 |
Nur Aisyah Athirah |
00000731 |
Jin Ai Mary Anne Tan et al.(2016) |
F |
Malaysia |
Malay |
- |
- |
- |
α-thalassaemia |
Presented at 5 months with background history of conjugated bilirubin, raised liver enzyme and neonatal hepatitis. |
HBA2 |
HBA2 |
2 |
1 |
Nur Aisyah Athirah |
00000732 |
Jin Ai Mary Anne Tan et al.(2016) |
F |
Malaysia |
Malay |
- |
- |
- |
α-thalassaemia |
Severe alpha-thalassemia intermedia |
HBA2 |
HBA2 |
2 |
1 |
Nur Aisyah Athirah |
00000733 |
Jin Ai Mary Anne Tan et al.(2016) |
M |
Malaysia |
Malay |
- |
- |
- |
α-thalassaemia |
Severe alpha-thalassemia intermedia |
HBA2 |
HBA2 |
2 |
1 |
Nur Aisyah Athirah |
00000734 |
Jin Ai Mary Anne Tan et al.(2016) |
M |
Malaysia |
Malay |
- |
- |
- |
α-thalassaemia |
Severe alpha-thalassemia intermedia |
HBA2 |
HBA2 |
2 |
1 |
Nur Aisyah Athirah |
00000735 |
Jin Ai Mary Anne Tan et al.(2016) |
F |
Malaysia |
Malay |
- |
- |
- |
α-thalassaemia |
Patient showed haemolytic anaemia with frontal bossing, tinge of jaundice, maxillary hyperplasia and hepatosplenomegaly. |
HBA2 |
HBA2 |
2 |
1 |
Nur Aisyah Athirah |
00000736 |
Jin Ai Mary Anne Tan et al.(2016) |
F |
Malaysia |
Malay |
- |
- |
- |
α-thalassaemia |
Presented at 9 years with anaemia and hepatosplenomegaly. |
HBA2 |
HBA2 |
2 |
1 |
Nur Aisyah Athirah |
00000737 |
Jin Ai Mary Anne Tan et al.(2016) |
F |
Malaysia |
Malay |
- |
- |
- |
α-thalassaemia |
- |
HBA2 |
HBA2 |
2 |
1 |
Nur Aisyah Athirah |
00000738 |
Jin Ai Mary Anne Tan et al.(2016) |
M |
Malaysia |
Malay |
- |
- |
- |
α-thalassaemia |
- |
HBA2 |
HBA2 |
2 |
1 |
Nur Aisyah Athirah |
00000739 |
Jin Ai Mary Anne Tan et al.(2016) |
M |
Malaysia |
Malay-Indian |
- |
- |
- |
α-thalassaemia |
Severe alpha-thalassemia intermedia |
HBA2 |
HBA2 |
2 |
1 |
Nur Aisyah Athirah |
00000740 |
Jin Ai Mary Anne Tan et al.(2016) |
M |
Malaysia |
Chinese |
- |
- |
- |
α-thalassaemia |
Severe alpha-thalassemia intermedia |
HBA2 |
HBA2 |
2 |
1 |
Nur Aisyah Athirah |
00000741 |
Jin Ai Mary Anne Tan et al.(2016) |
M |
Malaysia |
Malay |
- |
- |
- |
α-thalassaemia |
Severe alpha-thalassemia intermedia |
HBA2 |
HBA2 |
2 |
1 |
Nur Aisyah Athirah |
00000803 |
Rahimah Ahmad et al.(2012) |
- |
Malaysia |
Malay |
- |
- |
- |
α-thalassaemia |
- |
HBA2, HBB |
HBA2, HBB |
4 |
1 |
Noorzalifah Binti Mazuki |
00000957 |
Yong-Chui Wee et al. (2005) |
- |
Malaysia |
Chinese |
- |
- |
- |
α-thalassaemia |
- |
HBA2 |
HBA2 |
2 |
1 |
Nurul Atika Binti Musa |
00000958 |
Yong-Chui Wee et al. (2005) |
- |
Malaysia |
Indian |
- |
- |
- |
α-thalassaemia |
- |
HBA2 |
HBA2 |
1 |
1 |
Nurul Atika Binti Musa |
00001012 |
George E et al.(2012) |
M |
- |
Malay |
- |
- |
- |
α-thalassaemia |
Alpha-thalassemia intermedia |
HBA1 |
HBA1 |
1 |
1 |
MyHVP |
00001015 |
Lie-Injo et al.(1986) |
F |
- |
Indian |
- |
- |
- |
α-thalassaemia |
- |
HBA2 |
- |
- |
1 |
Nur Anis Afifah Binti Shamsudin |
00001016 |
Lie-Injo et al.(1986) |
M |
- |
Indian |
- |
- |
- |
α-thalassaemia |
- |
HBA2 |
- |
- |
1 |
Nur Anis Afifah Binti Shamsudin |
00001017 |
Lie-Injo et al.(1986) |
F |
- |
Indian |
- |
- |
- |
α-thalassaemia |
- |
- |
- |
- |
1 |
Nur Anis Afifah Binti Shamsudin |
00001018 |
Lie-Injo et al.(1986) |
F |
- |
Indian |
- |
- |
- |
α-thalassaemia |
- |
- |
- |
- |
1 |
Nur Anis Afifah Binti Shamsudin |
00001019 |
Lie-Injo et al.(1986) |
M |
- |
Indian |
- |
- |
- |
α-thalassaemia |
- |
- |
- |
- |
1 |
Nur Anis Afifah Binti Shamsudin |
00001020 |
Lie-Injo et al.(1986) |
M |
- |
Indian |
- |
- |
- |
α-thalassaemia |
- |
- |
- |
- |
1 |
Nur Anis Afifah Binti Shamsudin |
00001021 |
Lie-Injo et al.(1986) |
F |
- |
Indian |
- |
- |
- |
α-thalassaemia |
- |
- |
- |
- |
1 |
Nur Anis Afifah Binti Shamsudin |
00001022 |
Lie-Injo et al.(1986) |
M |
- |
Indian |
- |
- |
- |
α-thalassaemia |
- |
- |
- |
- |
1 |
Nur Anis Afifah Binti Shamsudin |
00001023 |
Lie-Injo et al.(1986) |
F |
- |
Indian |
- |
- |
- |
α-thalassaemia |
- |
- |
- |
- |
1 |
Nur Anis Afifah Binti Shamsudin |
00001024 |
Lie-Injo et al.(1986) |
F |
- |
Indian |
- |
- |
- |
α-thalassaemia |
- |
- |
- |
- |
1 |
Nur Anis Afifah Binti Shamsudin |
00001025 |
Lie-Injo et al.(1986) |
F |
- |
Indian |
- |
- |
- |
α-thalassaemia |
- |
- |
- |
- |
1 |
Nur Anis Afifah Binti Shamsudin |
00001026 |
Lie-Injo et al.(1986) |
F |
- |
Indian |
- |
- |
- |
α-thalassaemia |
- |
- |
- |
- |
1 |
Nur Anis Afifah Binti Shamsudin |
00001027 |
Ganesan et al.(1997) |
F |
- |
Malay |
- |
- |
- |
α-thalassaemia |
- |
- |
- |
- |
1 |
Nur Anis Afifah Binti Shamsudin |
00001028 |
Ganesan et al.(1997) |
F |
- |
Malay |
- |
- |
- |
α-thalassaemia |
- |
- |
- |
- |
1 |
Nur Anis Afifah Binti Shamsudin |
00001039 |
Rosline H et al.(2012) |
- |
- |
- |
- |
- |
- |
α-thalassaemia |
- |
- |
- |
- |
1 |
Nur Anis Afifah Binti Shamsudin |
00001040 |
Rosline H et al.(2012) |
- |
- |
- |
- |
- |
- |
α-thalassaemia |
- |
- |
- |
- |
1 |
Nur Anis Afifah Binti Shamsudin |
00001041 |
Rosline H et al.(2012) |
- |
- |
- |
- |
- |
- |
α-thalassaemia |
- |
- |
- |
- |
1 |
Nur Anis Afifah Binti Shamsudin |
00001042 |
Rosline H et al.(2012) |
- |
- |
- |
- |
- |
- |
α-thalassaemia |
- |
- |
- |
- |
1 |
Nur Anis Afifah Binti Shamsudin |
|
Legend |
How to query |