Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
MLH1 (mutL homolog 1, colon cancer, nonpolyposis ty...)
LOVD v.3.0 Build 29 [
Current LOVD status
]
Register as submitter
|
Log in
View all genes
View MLH1 gene homepage
View graphs about the MLH1 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene MLH1
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene MLH1
View all variants in gene MLH1
Full data view for gene MLH1
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
View all individuals with variants in gene MLH1
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene MLH1
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene MLH1
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Unique variants in the MLH1 gene
The variants shown are described using the NM_000249.3 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
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.
85 entries on 1 page. Showing entries 1 - 85.
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
Effect
Reported
Exon
DNA change (cDNA)
RNA change
Protein
Type
DNA change (genomic) (hg19)
Reference
DB-ID
Frequency
Variant remarks
ClassClinical
Owner
./.
2
00
c.-93G>A
-
-
SNP, 38/85 (45%) heterozygotes 19/85 (22%) homozygotes
-
GenBank
MLH1_00056
0.1538
5' UTR
-
Qi Ming
./.
3
00, 01
c.-28A>G
-
-
-
-
GenBank
MLH1_00081
0.0238, 0.0118
5' UTR
-
Qi Ming
./.
1
02
c.(115-?)_(545+?)del
-
-
-
-
GenBank
MLH1_00117
0.0154
Exon
-
Qi Ming
./.
1
07
c.(546_?)_(588+?)del
-
-
-
-
GenBank
MLH1_00118
0.0154
Exon
-
Qi Ming
./.
1
09
c.(676_?)_(1667+?)del
-
-
-
-
GenBank
MLH1_00116
0.0154
Exon
-
Qi Ming
./.
1
11
c.(883_?)_(1038+?)del
-
-
-
-
GenBank
MLH1_00115
0.0154
Exon
-
Qi Ming
./.
1
00
c.(?_-60)_(588+?)del
-
-
-
-
GenBank
MLH1_00114
0.0154
Exon
-
Qi Ming
./.
1
00
c.(?_-60)_116+?del
-
-
-
-
GenBank
MLH1_00102
0.0128
Exon
-
Qi Ming
./.
1
00
c.(?_-60)_116+?dup
-
-
-
-
GenBank
MLH1_00103
0.0128
Exon
-
Qi Ming
./.
1
00
c.(?_-60)_884+?del
-
-
-
-
GenBank
MLH1_00104
0.0128
Exon
-
Qi Ming
./.
1
12
c.1226_1227AG>GT
-
p.Gln409Arg
sporadic
-
GenBank
MLH1_00121
0.0147
Exon
-
Qi Ming
./.
1
19
c.2104-?_(*193_?)dup
-
-
-
-
GenBank
MLH1_00105
0.0128
Exon
-
Qi Ming
./.
1
01
c.107T>A
-
p.Ile36Asn
-
-
GenBank
MLH1_00035
0.0132
Exon
-
Qi Ming
./.
3
02
c.137G>T
-
p.Ser46Ile
missense mutation
-
GenBank
MLH1_00067
0.0089, 0.0172
Exon
-
Qi Ming
./.
2
02
c.194G>A
-
p.Gly65Asp
missense mutation
-
GenBank
MLH1_00108
0.0172, 0.0178
Exon
-
Qi Ming
./.
3
02
c.199G>A
-
p.Gly67Arg
-
-
GenBank
MLH1_00012
0.0714
Exon
-
Qi Ming
./.
1
03
c.208-1G>A
-
-
-
-
GenBank
MLH1_00036
0.0263
Intron
-
Qi Ming
./.
1
03
c.208-?_306+?dup
-
-
-
-
GenBank
MLH1_00106
0.0128
Exon
-
Qi Ming
./.
4
03
c.265G>T
-
p.Glu89X
nosense mutation
-
GenBank
MLH1_00150, MLH1_00002, MLH1_00250
0.0417, 0.0357, 0.0625
Exon
-
Qi Ming
./.
1
04
c.350C>T
-
p.Thr117Met
-
-
GenBank
MLH1_00074
0.008
Exon
-
Qi Ming
./.
1
05
c.453+1G>T
-
-
-
-
GenBank
MLH1_00037
0.0132
Intron
-
Qi Ming
./.
1
06
c.488delG
-
p.Arg163LysfsX4
-
-
GenBank
MLH1_00038
0.0132
Exon
-
Qi Ming
./.
1
06
c.497T>A
-
p.Leu166X
-
-
GenBank
MLH1_00039
0.0132
Exon
-
Qi Ming
./.
1
06
c.498A>C
-
p.Leu166Phe
-
-
GenBank
MLH1_00040
0.0263
Exon
-
Qi Ming
./.
1
06
c.503_504insA
-
p.Asn168LysfsX4
-
-
GenBank
MLH1_00032
0.04
Exon
-
Qi Ming
./.
2
06
c.545+3A>G
-
-
aberrant splicing
-
GenBank
MLH1_00089
0.0357
Intron
-
Qi Ming
./.
1
07
c.546-?_884+?del
-
-
-
-
GenBank
MLH1_00100
0.0128
Exon
-
Qi Ming
./.
1
07
c.572G>T
-
p.Ser191Ile
-
-
GenBank
MLH1_00041
0.0132
Exon
-
Qi Ming
./.
2
08
c.637G>T
-
p.Val213Leu
SNP
-
GenBank
MLH1_00012, MLH1_00138
0.0714
Exon
-
Qi Ming
./.
6
08
c.649C>T
-
p.Arg217Cys
-
-
GenBank
MLH1_00016, MLH1_00142
0.0833, 0.0714, 0.0159
Exon
-
Qi Ming
./.
6
08
c.655A>G
-
p.Ile219Val
-
-
GenBank
MLH1_00010
0.0357, 0.04
Exon
-
Qi Ming
./.
2
08
c.676C>T
-
p.Arg226X, p. Arg226X
-
-
GenBank
MLH1_00005
0.0588, 0.0539
Exon
-
Qi Ming
./.
3
08
c.677G>A
-
p.Arg226Gln
-
-
GenBank
MLH1_00030
0.04, 0.0357
Exon
-
Qi Ming
./.
1
08
c.677G>T
-
p.Arg226Leu
sporadic
-
GenBank
MLH1_00119
0.0147
Exon
-
Qi Ming
./.
1
09
c.753C>T
-
p.Ser252Phe
sporadic
-
GenBank
MLH1_00120
0.0147
Exon
-
Qi Ming
./.
1
10
c.790C>T
-
p.His264Tyr
-
-
GenBank
MLH1_00075
0.008
Exon
-
Qi Ming
./.
2
09
c.790+1G>A
-
-
high level microsatellite instability, aberrant splicing
-
GenBank
MLH1_00034
0.04, 0.0357
Intron
-
Qi Ming
./.
1
09
c.790+2T>A
-
-
-
-
GenBank
MLH1_00083
0.0159
Intron
-
Qi Ming
./.
1
10
c.808_811delACTT
-
p.Thr270ProfsX2
-
-
GenBank
MLH1_00122
0.0159
Exon
-
Qi Ming
./.
1
11
c.885-597_1038+1120del
-
-
-
-
GenBank
MLH1_00008
-
Exon
-
Qi Ming
./.
2
11
c.887T>G
-
p.Leu296X
-
-
GenBank
MLH1_00077
0.0263
Exon
-
Qi Ming
./.
1
11
c.888delA
-
p.Leu296LeufsX71
-
-
GenBank
MLH1_00054
0.006
Exon
-
Qi Ming
./.
1
11
c.901C>T
-
p.Gln301X
-
-
GenBank
MLH1_00055
0.018
Exon
-
Qi Ming
./.
2
11
c.914_937del24
-
p.Val305_His312del
four probands in four families, deletion
-
GenBank
MLH1_00006, MLH1_00109
0.25, 0.0172
Exon
-
Qi Ming
./.
1
11
c.920T>A
-
p.Val307Glu
-
-
GenBank
MLH1_00051
0.0132
Exon
-
Qi Ming
./.
2
11
c.927C>T
-
p.Pro309Pro
-
-
GenBank
MLH1_00088
0.0238, 0.0107
Exon
-
Qi Ming
./.
1
11
c.932_933insA
-
p.Lys311LysfsX3
frameshift
-
GenBank
MLH1_00110
0.0833
Exon
-
Qi Ming
./.
1
11
c.949C>A
-
p.Leu317Met
-
-
GenBank
MLH1_00043
0.0132
Exon
-
Qi Ming
./.
1
11
c.985C>A
-
p.His329Asn
-
-
GenBank
MLH1_00062
0.018
Exon
-
Qi Ming
./.
13
12
c.1151T>A
-
p.Val384Asp
SNP, missense mutation
-
GenBank
MLH1_00009, MLH1_00107
0.0178, 0.1667, 0.006, 0.0789, 0.1125, 0.0714, 0.13, 0.0667, 0.0172
Exon
-
Qi Ming
./.
1
12
c.1198C>G
-
p.Leu400Val
-
-
GenBank
MLH1_00020
0.0833
Exon
-
Qi Ming
./.
1
12
c.1246A>G
-
p.Lys416Glu
-
-
GenBank
MLH1_00044
0.0263
Exon
-
Qi Ming
./.
1
12
c.1362dupG
-
p.Thr455Aspfx24
-
-
GenBank
MLH1_00071
0.0299
Exon
-
Qi Ming
./.
1
12
c.1402A>G
-
p.Asn468Asp
-
-
GenBank
MLH1_00063
0.0359
Exon
-
Qi Ming
./.
2
13
c.1459C>T
-
p.Arg487X
-
-
GenBank
MLH1_00078
0.0526
Exon
-
Qi Ming
./.
3
13
c.1558+14G>A
-
-
-
-
GenBank
MLH1_00082
0.0263, 0.0238
Intron
-
Qi Ming
./.
2
14
c.1588_1590delTTC
-
p.Phe530del
deletion, aberrant splicing
-
GenBank
MLH1_00011
0.0833, 0.0172
Exon
-
Qi Ming
./.
1
14
c.1591_1592delGT
-
p.Val531GlyfsX25
-
-
GenBank
MLH1_00012
0.0322
Exon
-
Qi Ming
./.
1
14
c.1614G>A
-
p.Trp538X
-
-
GenBank
MLH1_00123
0.0159
Exon
-
Qi Ming
./.
1
14
c.1625A>T
-
p.Gln542Leu
-
-
GenBank
MLH1_00085
0.0159
Exon
-
Qi Ming
./.
1
14
c.1646T>C
-
p.Leu549Pro
-
-
GenBank
MLH1_00086
0.0159
Exon
-
Qi Ming
./.
1
15
c.1668-19A>G
-
-
-
-
GenBank
MLH1_00028
0.0476
Intron
-
Qi Ming
./.
1
15
c.1681T>C
-
p.Tyr561His
-
-
GenBank
MLH1_00064
0.0359
Exon
-
Qi Ming
./.
1
15
c.1721T>C
-
p.Leu574Pro
-
-
GenBank
MLH1_00087
0.0159
Exon
-
Qi Ming
./.
1
15
c.1731G>A
-
p.Ser577Ser
aberrant splicing
-
GenBank
MLH1_00148
0.0345
Exon
-
Qi Ming
./.
1
15
c.1731G>C
-
p.Ser577Ser
-
-
GenBank
MLH1_00045
0.0132
Exon
-
Qi Ming
./.
3
15
c.1731+1G>A
-
-
high level microsatellite instability, aberrant splicing
-
GenBank
MLH1_00013
0.04, 0.0833, 0.0172
Intron
-
Qi Ming
./.
2
16
c.1742C>T
-
p.Pro581Leu
-
-
GenBank
MLH1_00024
0.0089
Exon
-
Qi Ming
./.
1
16
c.1799A>G
-
p.Glu600Gly
-
-
GenBank
MLH1_00066
0.018
Exon
-
Qi Ming
./.
1
16
c.1823C>A
-
p.Ala608Asp
-
-
GenBank
MLH1_00046
0.0132
Exon
-
Qi Ming
./.
1
16
c.1846_1848delAAG
-
p.Lys616del
deletion
-
GenBank
MLH1_00147
0.0172
Exon
-
Qi Ming
./.
2
16
c.1852_1854delAAG
-
p.Lys618del
-
-
GenBank
MLH1_00079, MLH1_00073
0.0235, 0.0263
Exon
-
Qi Ming
./.
1
16
c.1879_1882delTCTT
-
p.Ser627TrpfsX9
-
-
GenBank
MLH1_00072
0.0299
Exon
-
Qi Ming
./.
1
17
c.1930delG
-
p.Asp644ThrfsX17
high level microsatellite instability
-
GenBank
MLH1_00033
0.04
Exon
-
Qi Ming
./.
1
17
c.1942C>T
-
p.Pro648Ser
-
-
GenBank
MLH1_00065
0.024
Exon
-
Qi Ming
./.
1
17
c.1946del
-
p.Pro649LeufsX12
-
-
GenBank
MLH1_00080
0.0118
Exon
-
Qi Ming
./.
1
17
c.1988A>C
-
p.Glu663Ala
-
-
GenBank
MLH1_00047
0.0263
Exon
-
Qi Ming
./.
1
18
c.2038T>C
-
p.Cys680Arg
-
-
GenBank
MLH1_00048
0.0132
Exon
-
Qi Ming
./.
1
18
c.2041G>A
-
p.Ala681Thr
high level microsatellite instability
-
GenBank
MLH1_00029
0.04
Exon
-
Qi Ming
./.
2
18
c.2080_2081insT
-
p.Gln824ArgfsX12, p.Glu694X
frameshift
-
GenBank
MLH1_00001, MLH1_00026
0.1667, 0.0833
Exon
-
Qi Ming
./.
4
18
c.2101C>A
-
p.Gln701Lys
-
-
GenBank
MLH1_00049
0.0132, 0.0235, 0.0107, 0.0089
Exon
-
Qi Ming
./.
1
18
c.2101C>T
-
p.Gln701X
-
-
GenBank
MLH1_00060
0.024
Exon
-
Qi Ming
./.
1
19
c.2141G>A
-
p.Trp714X
high level microsatellite instability
-
GenBank
MLH1_00031
0.04
Exon
-
Qi Ming
./.
2
19
c.2250C>G
-
p.Tyr750X
-
-
GenBank
MLH1_00012
0.0714
Exon
-
Qi Ming
./.
1
19
c.2266_2271del
-
p.?
-
-
GenBank
MLH1_00015
0.1111
Exon
-
Qi Ming
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
Powered by
LOVD v.3.0
Build 29
LOVD software ©2004-2023
Leiden University Medical Center