Iran Variome Retinitis Pigmentosa Database
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All variants
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.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
DNA change (genomic) (hg19)
: Description of variant at DNA level, based on the genomic DNA reference sequence (following HGVS recommendations).
g.12345678C>T
g.12345678_12345890del
g.12345678_12345890dup
Reference
: Reference to publication describing the variant, including links to OMIM (when available), PubMed or or other source, e.g. "den Dunnen ASHG2003 P2346".
DB-ID
: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro.
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! 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'
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.
60 entries on 1 page. Showing entries 1 - 60.
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Legend
How to query
Effect
Chr
DNA change (genomic) (hg19)
Reference
DB-ID
Owner
+/+
1
g.94508451C>G
-
ABCA4_000001
variome.ir
+/+
1
g.94508451C>G
-
ABCA4_000001
variome.ir
+/+
1
g.94522212T>G
-
ABCA4_000002
variome.ir
+/+
1
g.150316692C>T
-
PRPF3_000001
variome.ir
+/+
1
g.197298066C>G
-
CRB1_000002
variome.ir
+/+
1
g.197404079T>G
-
CRB1_000001
variome.ir
+/+
1
g.215848352G>A
-
USH2A_000002
variome.ir
?/?
1
g.216348595_216348825del
-
USH2A_000001
variome.ir
+/+
2
g.73679503_73679504delTC
-
ALMS1_000001
variome.ir
+/+
2
g.99012481G>A
-
CNGA3_000001
variome.ir
+/+
2
g.182423344G>A
-
CERKL_000001
variome.ir
+/+
2
g.182423344G>A
-
CERKL_000001
variome.ir
+/+
3
g.97499063A>T
-
ARL6_000001
variome.ir
+?/+?
3
g.100951806C>T
-
IMPG2_000003
variome.ir
?/?
3
g.100962953G>C
-
IMPG2_000004
variome.ir
+/+
3
g.100964681_100964702del
-
IMPG2_000001
variome.ir
+/+
3
g.101038427C>T
-
IMPG2_000002
variome.ir
+?/+?
3
g.193374902C>T
-
OPA1_000001
variome.ir
+?/-?
4
g.619654T>C
-
PDE6B_000001
variome.ir
+?/+?
4
g.15994002T>G
-
PROM1_000002
variome.ir
+/+
4
g.16002118C>T
-
PROM1_000004
variome.ir
+/+
4
g.16026824_16026827delTTCA
-
PROM1_000003
variome.ir
+/+
4
g.16035000G>A
-
PROM1_000001
variome.ir
?/?
6
g.42147103G>T
-
GUCA1A_000001
variome.ir
+/+
6
g.42672135C>A
-
PRPH2_000001
variome.ir
+?/+?
6
g.64574120C>A
-
EYS_000001
Saeed Reza Ghaffari
+/+
6
g.64776242delA
-
EYS_000004
variome.ir
+/+
6
g.66005755C>T
-
EYS_000002
Saeed Reza Ghaffari
+/+
6
g.66063502G>T
-
EYS_000003
variome.ir
?/?
6
g.73017063A>G
-
RIMS1_000001
variome.ir
+?/+?
7
g.128038574T>C
-
IMPDH1_000002
variome.ir
?/?
7
g.128041131T>C
-
IMPDH1_000001
variome.ir
+/+
8
g.55537940_55537941delAT
-
RP1_000001
variome.ir
+?/+?
10
g.55700727G>A
-
PCDH15_000001
variome.ir
+/+
10
g.73434910C>G
-
CDH23_000001
variome.ir
+?/+?
11
g.61730302C>T
-
BEST1_000001
variome.ir
+/+
11
g.76873185A>C
-
MYO7A_000002
variome.ir
+/+
11
g.76877119C>T
-
MYO7A_000001
variome.ir
+/+
12
g.88443057_88443060dup
-
CEP290_000001
variome.ir
+/+
12
g.88443060_88443061insAAG
-
CEP290_000002
variome.ir
+/+
12
g.88479869C>A
-
CEP290_000003
variome.ir
+/+
14
g.21762926_21762927insGGTGAAG
-
RPGRIP1_000001
variome.ir
+?/+?
14
g.68192831C>T
-
RDH12_000001
variome.ir
+?/+?
14
g.68195928G>C
-
RDH12_000003
variome.ir
+/+
14
g.68196003_68196004insC
-
RDH12_000002
variome.ir
+/+
15
g.89760351C>G
-
RLBP1_000001
variome.ir
+/+
15
g.89760351C>G
-
RLBP1_000001
variome.ir
+/+
16
g.56536655delG
-
BBS2_000002
variome.ir
+/+
16
g.56540053_56540056delTGTT
-
BBS2_000001
variome.ir
+?/+?
16
g.57949164G>A
-
CNGB1_000001
variome.ir
+/+
16
g.57965724G>T
-
CNGB1_000003
variome.ir
+/+
16
g.57998033C>T
-
CNGB1_000002
variome.ir
+/+
17
g.6329101C>T
-
AIPL1_000001
variome.ir
+?/+?
17
g.6330271A>G
-
AIPL1_000002
Saeed Reza Ghaffari
+/+
19
g.46274269G>A
-
chr19_000001
variome.ir
+/+
19
g.48339610G>T
-
CRX_000001
Saeed Reza Ghaffari
+?/+?
19
g.48342749A>G
-
CRX_000002
variome.ir
+/+
20
g.3899388A>G
-
PANK2_000001
variome.ir
+/+
X
g.18665333G>C
-
RS1_000001
variome.ir
+/+
X
g.46696544_46696546del
-
RP2_000001
Saeed Reza Ghaffari
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