Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
KCNE2 (potassium voltage-gated channel, Isk-related...)
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Unique variants in the KCNE2 gene
The variants shown are described using the NM_172201.1 transcript reference sequence.
Legend
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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.
Reported
: The number of times this variant has been reported in the database.
Exon
: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.
DNA change (cDNA)
: Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.
RNA change
: Description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: Description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Type
: Type of variant at DNA level; note that the variant type can also be derived from the variant description (for all levels).
All options:
Substitution
Deletion
Duplication
Insertion
Inversion
Insertion/Deletion
Translocation
Other/Complex
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.
Frequency
: Frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested).
Variant remarks
: Remarks regarding the variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
ClassClinical
: ClassClinical
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Operator
Column type
Example
Matches
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
=""
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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28 entries on 1 page. Showing entries 1 - 28.
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Effect
Reported
Exon
DNA change (cDNA)
RNA change
Protein
Type
DNA change (genomic) (hg19)
Reference
DB-ID
Frequency
Variant remarks
ClassClinical
Owner
./.
1
01
c.-77G>A
-
-
Substitution
-
GenBank
KCNE2_00037
0.08
blood
-
Qi Ming
./.
1
01
c.-44C>T
-
-
Substitution
-
GenBank
KCNE2_00038
0.18
blood
-
Qi Ming
./.
1
01
c.-28A>G
-
-
Substitution
-
GenBank
KCNE2_00004
-
unknown
-
Qi Ming
./.
1
01
c.-16A>G
-
-
Substitution
-
GenBank
KCNE2_00039
0.05
blood
-
Qi Ming
./.
5
02, 2
c.170T>C
-
p.Ile57Thr, p.(Ile57Thr)
Substitution
-
GenBank
KCNE2_00007, KCNE2_00025, KCNE2_00034
-
unknown, blood
-
Qi Ming
./.
9
02
c.22A>G
-
p.Thr8Ala
Substitution
-
GenBank
KCNE2_00003, KCNE2_00032
SNP 0.083, 16/1010, 0.3%
unknown, blood
-
Qi Ming
./.
1
02
c.23C>T
-
p.Thr8Ile
Substitution
-
GenBank
KCNE2_00010
-
unknown
-
Qi Ming
./.
4
02
c.25C>G
-
p.Gln9Glu
Substitution
-
GenBank
KCNE2_00005, KCNE2_00019
SNP 0.062, 3%
unknown, Peripheral blood
-
Qi Ming
./.
2
02
c.29C>T
-
p.Thr10Met
Substitution
-
GenBank
KCNE2_00031, KCNE2_00036
-
blood
-
Qi Ming
./.
1
02
c.40G>A
-
p.Val14Ile
Substitution
-
GenBank
KCNE2_00021
-
blood
-
Qi Ming
./.
1
02
c.59T>A
-
p.Ile20Asn
Substitution
-
GenBank
KCNE2_00022
-
blood
-
Qi Ming
./.
4
02
c.79C>T
-
P.Arg27Cys
Substitution
-
GenBank
KCNE2_00002
-
unknown, Blood
-
Qi Ming
./.
1
02
c.80G>A
-
p.Arg27His
Substitution
-
GenBank
KCNE2_00023
-
blood
-
Qi Ming
./.
1
02
c.156_161delCCTCAT
-
p.Tyr52X
Deletion
-
GenBank
KCNE2_00018
-
unknown
-
Qi Ming
./.
3
02
c.161T>C
-
p.Met54Thr
Substitution
-
GenBank
KCNE2_00006, KCNE2_00024, KCNE2_00033
-
unknown, blood
-
Qi Ming
./.
1
02
c.166A>G
-
p.Met56Val
Substitution
-
GenBank
KCNE2_00017
-
unknown
-
Qi Ming
./.
2
02
c.178T>C
-
p.Phe60Leu
Substitution
-
GenBank
KCNE2_00011
SNP 0.004
unknown
-
Qi Ming
./.
1
02
c.193G>A
-
p.Val65Met
Substitution
-
GenBank
KCNE2_00001
-
unknown
-
Qi Ming
./.
1
02
c.193G>C
-
p.Val65Leu
Substitution
-
GenBank
KCNE2_00026
-
blood
-
Qi Ming
./.
2
02
c.197C>T
-
p.Ala66Val
Substitution
-
GenBank
KCNE2_00012, KCNE2_00020
0.3%
unknown, Peripheral blood
-
Qi Ming
./.
2
02
c.229C>T
-
p.Arg77Trp
Substitution
-
GenBank
KCNE2_00015
-
unknown, blood
-
Qi Ming
./.
1
02
c.230G>A
-
p.Arg77Gln
Substitution
-
GenBank
KCNE2_00027
-
blood
-
Qi Ming
./.
1
02
c.269A>G
-
p.Glu90Gly
Substitution
-
GenBank
KCNE2_00030
-
unknown
-
Qi Ming
./.
1
02
c.281A>G
-
p.Glu94Gly
Substitution
-
GenBank
KCNE2_00028
-
blood
-
Qi Ming
./.
2
02
c.347C>T
-
p.Ala116Val
Substitution
-
GenBank
KCNE2_00008, KCNE2_00035
-
unknown, blood
-
Qi Ming
./.
1
02
c.348G>A
-
p.Ala116Ala
Substitution
-
GenBank
KCNE2_00013
SNP 0.021
unknown
-
Qi Ming
./.
1
02
c.354G>A
-
p.Gly118Gly
Substitution
-
GenBank
KCNE2_00009
-
unknown
-
Qi Ming
./.
2
02
c.369_370delCT
-
p.Pro123ProfsX16
Deletion
-
GenBank
KCNE2_00014, KCNE2_00029
0.003
unknown, blood
-
Qi Ming
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