Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
MYBPC3 (myosin binding protein C, cardiac)
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Unique variants in the MYBPC3 gene
The variants shown are described using the NM_000256.3 transcript reference sequence.
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.
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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Arg
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!
Text
!fs
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^
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^p.(Arg
all entries beginning with 'p.(Arg'
$
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Ser)$
all entries ending with 'Ser)'
=""
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all entries exactly matching 'p.0'
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combination
Text
*|Ter !fs
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Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
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<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
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>
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:
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Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
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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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220 entries on 3 pages. Showing entries 1 - 100.
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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
./.
9
06
c.772G>A
-
p.Glu258Lys, p.(Glu258Lys)
G5256A E258K, c.804G>A
-
GenBank
MYBPC3_00010
-
blood, peripheral blood
-
Qi Ming
./.
4
29, 32, 18
c.?
-
p.?, p.Asp570X
GCAAG insertion in position 18115 exon 29, a 25-bp deletion in intron 32, c.3522+1G>A,
1 more item
-
GenBank
MYBPC3_00006
-
blood
-
Qi Ming
./.
2
01
c.13G>C
-
p.Gly5Arg
G to C substitution in exon 01
-
GenBank
MYBPC3_00005
-
blood, sarcomere,mitochondrial
-
Qi Ming
./.
1
02
c.26-2A>G
-
-
-
-
GenBank
MYBPC3_00153
-
blood
-
Qi Ming
./.
1
02
c.141delT
-
p.Ser47ArgfsX20
-
-
GenBank
MYBPC3_00154
-
blood
-
Qi Ming
./.
2
02
c.175A>G
-
p.Thr59Ala
Thr59Ala
-
GenBank
MYBPC3_00042
-
blood
-
Qi Ming
./.
1
02
c.208G>T
-
p.Glu70X
-
-
GenBank
MYBPC3_00233
NA
unknown
-
Qi Ming
./.
1
02
c.223G>A
-
p.Asp75Asn
-
-
GenBank
MYBPC3_00162
-
blood
-
Qi Ming
./.
1
02
c.226C>T
-
p.Gln76X
-
-
GenBank
MYBPC3_00119
-
blood
-
Qi Ming
./.
1
02
c.237C>G
-
p.Tyr79X
-
-
GenBank
MYBPC3_00057
-
unknow
-
Qi Ming
./.
1
03
c.390delT
-
p.Ser130ArgfsX29
delC390
-
GenBank
MYBPC3_00206
-
blood
-
Qi Ming
./.
3
04
c.472G>A
-
p.Val158Leu, p.Val158Met
-
-
GenBank
MYBPC3_00077
T=0.051/46
unknown, sarcomere,mitochondrial, lymphocytes
-
Qi Ming
./.
1
04
c.474G>A
-
p.Val158Val
-
-
GenBank
MYBPC3_00047
-
peripheral blood
-
Qi Ming
./.
2
04
c.478C>T
-
p.Arg160Trp
-
-
GenBank
MYBPC3_00061
NA
peripheral blood, unknown
-
Qi Ming
./.
1
04
c.495G>T
-
p.Glu165Asp
E165D
-
GenBank
MYBPC3_00033
-
peripheral blood
-
Qi Ming
./.
1
05
c.518C>T
-
p.Thr173Ile
-
-
GenBank
MYBPC3_00232
NA
unknown
-
Qi Ming
./.
1
05
c.565G>A
-
p.Val189Ile
-
-
GenBank
MYBPC3_00231
NA
unknown
-
Qi Ming
./.
1
05
c.565G>C
-
p.Val189Leu
-
-
GenBank
MYBPC3_00048
-
peripheral blood
-
Qi Ming
./.
1
05
c.604A>C
-
p.Lys202Gln
A to G substitution in exon 05
-
GenBank
MYBPC3_00174
-
blood
-
Qi Ming
./.
2
05
c.646G>A
-
p.Ala216Thr
-
-
GenBank
MYBPC3_00086
-
blood, lymphocytes
-
Qi Ming
./.
1
05
c.649A>G
-
p.Ser217Gly
-
-
GenBank
MYBPC3_00230
NA
unknown
-
Qi Ming
./.
2
06, 6
c.655-2A>C
-
-
IVS5-2A>C
-
GenBank
MYBPC3_00181
-
unknown
-
Qi Ming
./.
2
06
c.682G>A
-
p.Asp228Asn
a G>A transition Asp228Asn
-
GenBank
MYBPC3_00105
-
blood
-
Qi Ming
./.
6
06
c.706A>G
-
p.Ser236Gly
A to C substitution in exon 06, Ser236Gly
-
GenBank
MYBPC3_00161, MYBPC3_00049
C=0.083/105
peripheral blood , unknown, sarcomere,mitochondrial, lymphocytes, white blood cell
-
Qi Ming
./.
1
06
c.709T>C
-
p.Tyr237His
-
-
GenBank
MYBPC3_00069
-
peripheral blood lymphocytes
-
Qi Ming
./.
1
06
c.710A>C
-
p.Tyr237Ser
-
-
GenBank
MYBPC3_00034
-
blood
-
Qi Ming
./.
1
06
c.710A>G
-
p.Tyr237Cys
Y237C c.a710g
-
GenBank
MYBPC3_00142
-
blood
-
Qi Ming
./.
1
06
c.711C>A
-
p.Tyr237X
-
-
GenBank
MYBPC3_00155
-
blood
-
Qi Ming
./.
1
06
c.720G>T
-
p.Glu240Asp
-
-
GenBank
MYBPC3_00034
-
peripheral blood
-
Qi Ming
./.
1
06
c.744C>A
-
p.Asp248Glu
-
-
GenBank
MYBPC3_00229
NA
unknown
-
Qi Ming
./.
1
06
c.756del
-
p.Phe252LeufsX48
delc756
-
GenBank
MYBPC3_00022
-
peripheral blood
-
Qi Ming
./.
1
06
c.770A>C
-
p.His257Pro
A5254C H257P
-
GenBank
MYBPC3_00120
-
blood
-
Qi Ming
./.
1
06
c.772+5G>A
-
-
-
-
GenBank
MYBPC3_00171
-
blood
-
Qi Ming
./.
1
07
c.776C>T
-
p.Ala259Val
-
-
GenBank
MYBPC3_00228
NA
unknown
-
Qi Ming
./.
2
07
c.786C>T
-
p.Thr262Thr, p.=
Thr262Thr
-
GenBank
MYBPC3_00050
-
peripheral blood, white blood cell
-
Qi Ming
./.
1
07
c.787G>A
-
p.Gly263Arg
-
-
GenBank
MYBPC3_00113
-
blood
-
Qi Ming
./.
1
07
c.787G>T
-
p.Gly263X
G263X c.g787t
-
GenBank
MYBPC3_00143
-
blood
-
Qi Ming
./.
1
07
c.791_792insG
-
p.Asp264GlufsX22
insG791
-
GenBank
MYBPC3_00023
-
blood
-
Qi Ming
./.
3
07
c.814C>T
-
p.Arg272Cys
C to T substitution in exon 07
-
GenBank
MYBPC3_00074
-
blood
-
Qi Ming
./.
1
07
c.818G>A
-
p.Arg273His
-
-
GenBank
MYBPC3_00105
-
blood
-
Qi Ming
./.
2
07
c.821+1G>A
-
p.?
IVS7+1G>A Intron 7 Donor site +1 G>A
-
GenBank
MYBPC3_00033
-
blood
-
Qi Ming
./.
1
07
c.821+5G>A
-
p.?
IVS7+5:g5828a
-
GenBank
MYBPC3_00121
-
blood
-
Qi Ming
./.
3
08
c.833G>A
-
p.Gly278Glu
G6011A G278E
-
GenBank
MYBPC3_00077
NA
blood, unknown, whole blood
-
Qi Ming
./.
1
08
c.836G>C
-
p.Gly279Ala
G6014C G279A
-
GenBank
MYBPC3_00122
-
blood
-
Qi Ming
./.
1
08
c.842G>A
-
p.Arg281Gln
-
-
GenBank
MYBPC3_00227
NA
unknown
-
Qi Ming
./.
2
08
c.844C>T
-
p.Arg282Trp
R282W Exon 9 C>T at nt 876
-
GenBank
MYBPC3_00028
-
blood
-
Qi Ming
./.
1
09
c.890C>A
-
p.Ser297X
C to A substitution in exon 09
-
GenBank
MYBPC3_00179
-
blood
-
Qi Ming
./.
1
12
c.927-9G>A
-
-
-
-
GenBank
MYBPC3_00172
-
blood
-
Qi Ming
./.
1
12
c.927-2A>G
-
-
-
-
GenBank
MYBPC3_00123
-
blood
-
Qi Ming
./.
1
12
c.932C>A
-
p.Ser311X
-
-
GenBank
MYBPC3_00070
-
peripheral blood lymphocytes
-
Qi Ming
./.
9
12
c.977G>A
-
p.Arg326Gln
G7360A R326Q, Arg326Gln
-
GenBank
MYBPC3_00024
NA
blood, peripheral blood, unknown, white blood cell
-
Qi Ming
./.
1
12
c.979delC
-
p.Gln327ArgfsX23
-
-
GenBank
MYBPC3_00167
-
blood
-
Qi Ming
./.
2
12
c.1000G>A
-
p.Glu334Lys
-
-
GenBank
MYBPC3_00062
-
blood, peripheral blood
-
Qi Ming
./.
1
12
c.1020C>A
-
p.Tyr340X
-
-
GenBank
MYBPC3_00035
-
peripheral blood
-
Qi Ming
./.
1
12
c.1025T>A
-
p.Val342Asp
V342D c.t1025a
-
GenBank
MYBPC3_00144
-
blood
-
Qi Ming
./.
1
12
c.1028delC
-
p.Thr343MetfsX7
-
-
GenBank
MYBPC3_00085
-
blood
-
Qi Ming
./.
2
12
c.1042_1043insAA
-
p.Met348LysfsX3
InsAA1042, insAA1042 Exon 30
-
GenBank
MYBPC3_00199
-
blood
-
Qi Ming
./.
1
12
c.1047delA
-
p.Lys350ArgfsX6
DelG1047
-
GenBank
MYBPC3_00198
-
blood
-
Qi Ming
./.
1
12
c.1055T>C
-
p.Leu352Pro
T7435C L352P
-
GenBank
MYBPC3_00124
-
blood
-
Qi Ming
./.
1
12
c.1065_1066insC
-
p.Arg356GlnfsX4
-
-
GenBank
MYBPC3_00044
-
peripheral blood
-
Qi Ming
./.
1
12
c.1090+1G>A
-
-
-
-
GenBank
MYBPC3_00036
-
peripheral blood
-
Qi Ming
./.
1
13
c.1091-24C>T
-
p.=
IVS 12-24 C/T
-
GenBank
MYBPC3_00194
-
white blood cell
-
Qi Ming
./.
1
13
c.1091-2A>G
-
p.?
IVS12
-
GenBank
MYBPC3_00191
-
blood
-
Qi Ming
./.
1
13
c.1116_1132del
-
p.Tyr373ProfsX11
-
-
GenBank
MYBPC3_00108
-
blood
-
Qi Ming
./.
1
13
c.1144C>A
-
p.Arg382Arg
-
-
GenBank
MYBPC3_00226
A=0.066/23
unknown
-
Qi Ming
./.
1
13
c.1147C>G
-
p.Leu383Val
-
-
GenBank
MYBPC3_00225
NA
unknown
-
Qi Ming
./.
1
13
c.1173delC
-
p.Asp391GlufsX15
-
-
GenBank
MYBPC3_00086
-
blood
-
Qi Ming
./.
1
13
c.1210C>T
-
p.Gln404X
Q404fs del C c.c1210a
-
GenBank
MYBPC3_00197
-
blood
-
Qi Ming
./.
1
13
c.1223+29G>A
-
p.=
IVS 13 +29 G/A
-
GenBank
MYBPC3_00196
-
white blood cell
-
Qi Ming
./.
1
14
c.1226+1G>T
-
-
c.1223+1G>T
-
GenBank
MYBPC3_00071
-
peripheral blood lymphocytes
-
Qi Ming
./.
1
15
c.1227-19C>A
-
-
c.1224-19G>A
-
GenBank
MYBPC3_00072
-
peripheral blood lymphocytes
-
Qi Ming
./.
1
15
c.1227-13G>A
-
-
IVS14-13G>A
-
GenBank
MYBPC3_00189
-
unknown
-
Qi Ming
./.
1
15
c.1227-2A>G
-
p.?
IVS14
-
GenBank
MYBPC3_00125
-
blood
-
Qi Ming
./.
1
15
c.1231_1232insTTCA
-
p.Phe412HisfsX3
TTCA insertion in position 19484,InsTTCA1231
-
GenBank
MYBPC3_00200
-
blood
-
Qi Ming
./.
1
15
c.1235_1236delTT
-
p.Phe412X
-
-
GenBank
MYBPC3_00013
-
blood
-
Qi Ming
./.
2
15
c.1246G>A
-
p.Gly416Ser
-
-
GenBank
MYBPC3_00051
-
blood, peripheral blood
-
Qi Ming
./.
1
15
c.1273C>T
-
p.Gln425X
Gln425X
-
GenBank
MYBPC3_00043
-
blood
-
Qi Ming
./.
1
15
c.1282_1283del
-
p.Leu428GlyfsX16
Del TT10512
-
GenBank
MYBPC3_00126
-
blood
-
Qi Ming
./.
1
15
c.1319G>A
-
p.Gly440Asp
-
-
GenBank
MYBPC3_00224
NA
unknown
-
Qi Ming
./.
1
15
c.1321G>A
-
p.Glu441Lys
-
-
GenBank
MYBPC3_00160
-
blood
-
Qi Ming
./.
1
15
c.1351G>C
-
p.Glu451Gln
c.1383G>C
-
GenBank
MYBPC3_00201
-
blood
-
Qi Ming
./.
1
16
c.1352-1G>A
-
p.?
-
-
GenBank
MYBPC3_00114
-
blood
-
Qi Ming
./.
1
16
c.1357_1358del
-
p.Pro453CysfsX21
loss of two nucleotides in codon 453 of MYBPC3
-
GenBank
MYBPC3_00141
-
blood
-
Qi Ming
./.
1
16
c.1377delC
-
p.Leu460TrpfsX6
1376delC
-
GenBank
MYBPC3_00186
-
blood
-
Qi Ming
./.
1
16
c.1412T>A
-
p.Val471Glu
-
-
GenBank
MYBPC3_00163
-
blood
-
Qi Ming
./.
4
17
c.1468G>A
-
p.Gly490Arg
G to A substitution in exon 17
-
GenBank
MYBPC3_00037
-
blood , peripheral blood, whole blood, sarcomere,mitochondrial
-
Qi Ming
./.
1
17
c.1483C>G
-
p.Arg495Gly
-
-
GenBank
MYBPC3_00078
-
whole blood
-
Qi Ming
./.
3
17
c.1483C>T
-
p.Arg495Trp
R495W c.c1483t
-
GenBank
MYBPC3_00142, MYBPC3_00145
-
blood
-
Qi Ming
./.
3
17
c.1484G>A
-
p.Arg495Gln
-
-
GenBank
MYBPC3_00018
-
blood, lymphocytes
-
Qi Ming
./.
4
17
c.1504C>T
-
p.Arg502Trp
C10951T R502W
-
GenBank
MYBPC3_00079
-
blood, whole blood
-
Qi Ming
./.
6
17
c.1505G>A
-
p.Arg502Gln
c.1537G>A
-
GenBank
MYBPC3_00019
-
blood , peripheral blood, whole blood
-
Qi Ming
./.
3
17
c.1513_1515del
-
p.Lys505del
Del 10957
-
GenBank
MYBPC3_00057
-
blood
-
Qi Ming
./.
5
17
c.1519G>A
-
p.Gly507Arg
G507R Exon 17 G>A at nt 1818
-
GenBank
MYBPC3_00029
T=0.002/3
blood, peripheral blood, unknown
-
Qi Ming
./.
1
17
c.1544A>G
-
p.Asn515Ser
-
-
GenBank
MYBPC3_00223
NA
unknown
-
Qi Ming
./.
2
17
c.1564G>A
-
p.Ala522Pro, c.Ala522Thr
-
-
GenBank
MYBPC3_00044
T=0.006/2
unknown, blood
-
Qi Ming
./.
1
17
c.1567G>T
-
p.Gly523Trp
-
-
GenBank
MYBPC3_00087
-
blood
-
Qi Ming
./.
1
17
c.1574A>C
-
p.Tyr525Ser
-
-
GenBank
MYBPC3_00039
-
peripheral blood
-
Qi Ming
./.
1
17
c.1591G>A
-
p.Gly531Arg
-
-
GenBank
MYBPC3_00038
-
peripheral blood
-
Qi Ming
./.
1
17
c.1591G>C
-
p.Gly531Arg
G531R c.c1591a
-
GenBank
MYBPC3_00146
-
blood
-
Qi Ming
./.
1
17
c.1602_1603del
-
p.Leu535GlyfsX2
Del GC 11047
-
GenBank
MYBPC3_00128
-
blood
-
Qi Ming
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