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.
How to query this table
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For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
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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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.
|
Legend |
How to query |
Individual ID
|
Reference
|
Gender
|
Geographic origin
|
Ethnic origin
|
Population
|
Remarks
|
Microattribution
|
Disease
|
Phenotype details
|
Variants
|
Panel size
|
Owner
|
00000121 |
Rahimah Ahmad et al. (2013) |
? |
Malaysia |
Chinese |
- |
- |
- |
α-thalassaemia |
Carriers |
3 |
1 |
Nuur Athirah Binti Mohd Daud |
00000122 |
Rahimah Ahmad et al. (2013) |
? |
Malaysia |
- |
Sabah |
- |
- |
α-thalassaemia |
Carriers |
2 |
1 |
Nuur Athirah Binti Mohd Daud |
00000124 |
Rahimah Ahmad et al. (2013) |
? |
Malaysia |
Orang Asli |
- |
- |
- |
α-thalassaemia |
Carriers |
2 |
1 |
Nuur Athirah Binti Mohd Daud |
00000125 |
Rahimah Ahmad et al. (2013) |
? |
Malaysia |
- |
- |
- |
- |
α-thalassaemia |
Carriers |
3 |
1 |
Nuur Athirah Binti Mohd Daud |
00000126 |
Rahimah Ahmad et al. (2013) |
? |
Malaysia |
- |
Sarawak |
- |
- |
α-thalassaemia |
Carriers |
1 |
1 |
Nuur Athirah Binti Mohd Daud |
00000580 |
T Y Lee et al.(2016) |
- |
Malaysia |
Malay |
- |
- |
- |
α-thalassaemia |
- |
1 |
1 |
Nur Aisyah Athirah |
00000593 |
S Shwe et al.(2020) |
- |
Malaysia |
- |
- |
- |
- |
Neonatal Hyperbilirubinemia |
- |
2 |
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 |
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 |
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 |
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 |
1 |
1 |
Nur Aisyah Athirah |
00000651 |
Hafiza Alauddin et al.(2018) |
M |
Malaysia |
- |
- |
- |
- |
α-thalassaemia |
- |
2 |
1 |
Nur Aisyah Athirah |
00000675 |
Jin-Ai M A Tan et al.(2014) |
- |
Miri, Sarawak |
Chinese |
- |
- |
- |
HBB |
- |
1 |
1 |
Nur Aisyah Athirah |
00000687 |
Jin-Ai M A Tan et al.(2014) |
- |
Limbang, Sarawak |
Malay |
- |
- |
- |
HBB |
- |
1 |
1 |
Nur Aisyah Athirah |
00000693 |
Jin-Ai M A Tan et al.(2014) |
- |
Limbang, Sarawak |
Malay-Bisayak |
- |
- |
- |
HBB |
- |
1 |
1 |
Nur Aisyah Athirah |
00000694 |
Jin-Ai M A Tan et al.(2014) |
- |
Limbang, Sarawak |
Malay-Kedayan |
- |
- |
- |
HBB |
- |
1 |
1 |
Nur Aisyah Athirah |
00000699 |
Jin-Ai M A Tan et al.(2014) |
- |
Lawas, Sarawak |
Malay |
- |
- |
- |
HBB |
- |
1 |
1 |
Nur Aisyah Athirah |
00000729 |
Jin Ai Mary Anne Tan et al.(2016) |
F |
Malaysia |
Malay |
- |
- |
- |
α-thalassaemia |
Alpha-thalassemia intermedia |
2 |
1 |
Nur Aisyah Athirah |
00000730 |
Jin Ai Mary Anne Tan et al.(2016) |
F |
Malaysia |
Malay |
- |
- |
- |
α-thalassaemia |
Severe alpha-thalassemia intermedia |
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. |
2 |
1 |
Nur Aisyah Athirah |
00000732 |
Jin Ai Mary Anne Tan et al.(2016) |
F |
Malaysia |
Malay |
- |
- |
- |
α-thalassaemia |
Severe alpha-thalassemia intermedia |
2 |
1 |
Nur Aisyah Athirah |
00000733 |
Jin Ai Mary Anne Tan et al.(2016) |
M |
Malaysia |
Malay |
- |
- |
- |
α-thalassaemia |
Severe alpha-thalassemia intermedia |
2 |
1 |
Nur Aisyah Athirah |
00000734 |
Jin Ai Mary Anne Tan et al.(2016) |
M |
Malaysia |
Malay |
- |
- |
- |
α-thalassaemia |
Severe alpha-thalassemia intermedia |
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. |
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. |
2 |
1 |
Nur Aisyah Athirah |
00000737 |
Jin Ai Mary Anne Tan et al.(2016) |
F |
Malaysia |
Malay |
- |
- |
- |
α-thalassaemia |
- |
2 |
1 |
Nur Aisyah Athirah |
00000738 |
Jin Ai Mary Anne Tan et al.(2016) |
M |
Malaysia |
Malay |
- |
- |
- |
α-thalassaemia |
- |
2 |
1 |
Nur Aisyah Athirah |
00000739 |
Jin Ai Mary Anne Tan et al.(2016) |
M |
Malaysia |
Malay-Indian |
- |
- |
- |
α-thalassaemia |
Severe alpha-thalassemia intermedia |
2 |
1 |
Nur Aisyah Athirah |
00000740 |
Jin Ai Mary Anne Tan et al.(2016) |
M |
Malaysia |
Chinese |
- |
- |
- |
α-thalassaemia |
Severe alpha-thalassemia intermedia |
2 |
1 |
Nur Aisyah Athirah |
00000741 |
Jin Ai Mary Anne Tan et al.(2016) |
M |
Malaysia |
Malay |
- |
- |
- |
α-thalassaemia |
Severe alpha-thalassemia intermedia |
2 |
1 |
Nur Aisyah Athirah |
00000803 |
Rahimah Ahmad et al.(2012) |
- |
Malaysia |
Malay |
- |
- |
- |
α-thalassaemia |
- |
3 |
1 |
Noorzalifah Binti Mazuki |
00000957 |
Yong-Chui Wee et al. (2005) |
- |
Malaysia |
Chinese |
- |
- |
- |
α-thalassaemia |
- |
2 |
1 |
Nurul Atika Binti Musa |
00000958 |
Yong-Chui Wee et al. (2005) |
- |
Malaysia |
Indian |
- |
- |
- |
α-thalassaemia |
- |
1 |
1 |
Nurul Atika Binti Musa |
|
Legend |
How to query |