Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
FH (fumarate hydratase)
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Unique variants in the FH gene
The variants shown are described using the NM_000143.3 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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Example
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Arg
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space
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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)'
=""
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=""
all entries with this field empty
=""
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="p.0"
all entries exactly matching 'p.0'
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!=""
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!=""
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!="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
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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131 entries on 2 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
./.
1
01
c.-?_132+?del
-
-
This mutation is novel, not a frequent cause of HLRCC syndrome. The mitochondrial signal peptide of
-
GenBank
FH_00144
-
blood samples or cultured lymphocytes
-
Qi Ming
./.
2
07
c.?
-
p.?
The changes occurred at sites of residues which are generally conserved across species,
1 more item
-
GenBank
FH_00136, FH_00027
-
blood, cultured skin fibroblasts
-
Qi Ming
./.
1
01
c.1-?_1404+?del
-
p.Met1-?_X468+?del
complete deletion of FH
-
GenBank
FH_00090
-
peripheral blood leucocytes
-
Qi Ming
./.
1
00
c.1_1533del
-
p.?
whole gene deletion
-
GenBank
FH_00148
-
blood
-
Qi Ming
./.
1
01
c.4T>C
-
p.Tyr2His
-
-
GenBank
FH_00179
NA
unknown
-
Qi Ming
./.
1
01
c.15dup
-
p.Arg6SerfsX50
-
-
GenBank
FH_00181
NA
unknown
-
Qi Ming
./.
1
01
c.50C>T
-
p.Ala17Val
-
-
GenBank
FH_00177
NA
unknown
-
Qi Ming
./.
1
01
c.77C>T
-
p.Pro26Leu
-
-
GenBank
FH_00176
NA
unknown
-
Qi Ming
./.
2
02
c.139C>T
-
p.Gln47X
a founder effect,
1 more item
-
GenBank
FH_00028
-
peripheral blood, blood
-
Qi Ming
./.
1
02
c.143dup
-
p.Arg6SerfsX50
-
-
GenBank
FH_00180
NA
unknown
-
Qi Ming
./.
1
02
c.157G>T
-
p.Glu53X
novel
-
GenBank
FH_00149
-
blood
-
Qi Ming
./.
1
02
c.172G>T
-
p.Gly58Cys
-
-
GenBank
FH_00174
NA
unknown
-
Qi Ming
./.
1
02
c.178delC
-
p.Leu60X
Disease-associated missense FH changes map to highly conserved residues, mostly in or around the enz
-
GenBank
FH_00065
-
blood
-
Qi Ming
./.
2
02
c.191A>C
-
p.Asn64Thr
-,
1 more item
-
GenBank
FH_00112
-
blood, tummor
-
Qi Ming
./.
1
02
c.194A>G
-
p.Asp65Gly
-
-
GenBank
FH_00173
NA
unknown
-
Qi Ming
./.
1
02
c.222A>T
-
p.Arg74Ser
-
-
GenBank
FH_00172
NA
unknown
-
Qi Ming
./.
1
02
c.233del
-
p.Asn78ThrfsX7
-
-
GenBank
FH_00082
-
blood
-
Qi Ming
./.
1
02
c.239dupA
-
p.Ile81AspfsX14
confirmed by subcloning a frameshift mutation produce a truncated protein
-
GenBank
FH_00001
-
peripheral blood
-
Qi Ming
./.
1
02
c.256_257del
-
p.Glu86ThrfsX8
novel
-
GenBank
FH_00091
-
peripheral blood lymphocytes
-
Qi Ming
./.
1
02
c.259C>T
-
p.Arg87Cys
-
-
GenBank
FH_00171
NA
unknown
-
Qi Ming
./.
2
02
c.267+1G>C
-
-
splice site mutation, -
-
GenBank
FH_00002
-
peripheral blood, peripheral blood lymphocytes
-
Qi Ming
./.
1
02
c.267+1_267+10del
-
p.=
novel
-
GenBank
FH_00093
-
peripheral blood lymphocytes
-
Qi Ming
./.
1
03
c.276del
-
p.Ile93LeufsX7
novel
-
GenBank
FH_00092
-
peripheral blood lymphocytes
-
Qi Ming
./.
4
03
c.301C>T
-
p.Arg101X
-, previously reported,
1 more item
-
GenBank
FH_00003
-
peripheral blood, blood, peripheral blood lymphocytes
-
Qi Ming
./.
1
03
c.305C>T
-
p.Ala102Val
-
-
GenBank
FH_00170
NA
unknown
-
Qi Ming
./.
3
03
c.320A>C
-
p.Asn107Thr
The most frequent FH germline mutations reported in series of patients with HLRCC in Europe.Haplotyp,
2 more items
-
GenBank
FH_00004
-
peripheral blood, blood, peripheral blood lymphocytes
-
Qi Ming
./.
4
03
c.349G>C
-
p.Ala117Pro
previously reported, -,
1 more item
-
GenBank
FH_00030
-
peripheral blood lymphocytes, blood
-
Qi Ming
./.
1
03
c.361A>C
-
p.Met121Leu
-
-
GenBank
FH_00169
NA
unknown
-
Qi Ming
./.
1
03
c.376_378+1 delinsA
-
p.Glu126del
novel
-
GenBank
FH_00095
-
peripheral blood lymphocytes
-
Qi Ming
./.
1
03
c.376_378+1delinsA
-
p.Glu126del
novel
-
GenBank
FH_00124
-
peripheral blood lymphocytes
-
Qi Ming
./.
1
04
c.379-22A>T
-
-
-
-
GenBank
FH_00142
-
tummor
-
Qi Ming
./.
1
04
c.379-2A>G
-
p.=
novel
-
GenBank
FH_00097
-
peripheral blood lymphocytes
-
Qi Ming
./.
2
04
c.395T>C
-
p.Leu132Ser
FH activity was significantly decreased compared to matched normal controls: L89S (mean 118 nmol,
1 more item
-
GenBank
FH_00005
-
peripheral blood, peripheral blood lymphocytes
-
Qi Ming
./.
1
04
c.404A>G
-
p.His135Arg
a founder effect; novel
-
GenBank
FH_00131
-
peripheral blood
-
Qi Ming
./.
1
04
c.427del
-
p.Thr143LeufsX9
novel
-
GenBank
FH_00099
-
peripheral blood lymphocytes
-
Qi Ming
./.
2
04
c.434C>G
-
p.Ser145X
de novo mutation; mutations associated with an absence of cutaneous leiomyomas; lower FH enzyme,
1 more item
-
GenBank
FH_00006
-
peripheral blood, peripheral blood lymphocytes
-
Qi Ming
./.
1
04
c.437G>A
-
p.Gly146Glu
-
-
GenBank
FH_00168
NA
unknown
-
Qi Ming
./.
2
04
c.473G>T
-
p.Ser158Ile
-, new
-
GenBank
FH_00071
-
blood, peripheral blood
-
Qi Ming
./.
1
04
c.478A>G
-
p.Arg160Gly
de novo
-
GenBank
FH_00007
-
peripheral blood
-
Qi Ming
./.
3
04
c.539A>G
-
p.His180Arg
previously reported, -,
1 more item
-
GenBank
FH_00031
-
peripheral blood lymphocytes, blood
-
Qi Ming
./.
1
04
c.553C>T
-
p.Gln185X
new
-
GenBank
FH_00072
-
peripheral blood
-
Qi Ming
./.
2
04
c.554A>G
-
p.Gln185Arg
-,
1 more item
-
GenBank
FH_00032
-
blood
-
Qi Ming
./.
1
04
c.555+1G>A
-
p.=
novel
-
GenBank
FH_00110
-
peripheral blood lymphocytes
-
Qi Ming
./.
1
05
c.556-941_556-16dup
-
p.=
an enzymatic activity less than half that of nonaffected family members
-
GenBank
FH_00089
-
blood?
-
Qi Ming
./.
1
05
c.560C>T
-
p.Ser187Leu
-
-
GenBank
FH_00046
-
blood
-
Qi Ming
./.
1
05
c.563A>G
-
p.Asn188Ser
-
-
GenBank
FH_00047
-
blood
-
Qi Ming
./.
1
05
c.575C>T
-
p.Pro192Leu
a founder effect; novel
-
GenBank
FH_00133
-
peripheral blood
-
Qi Ming
./.
1
05
c.584T>C
-
p.Met195Thr
-
-
GenBank
FH_00048
-
blood
-
Qi Ming
./.
3
05
c.587A>G
-
p.His196Arg
-, also found in the patient
-
GenBank
FH_00024
-
blood, blood?, Tumors
-
Qi Ming
./.
1
05
c.632T>C
-
p.Leu211Pro
novel
-
GenBank
FH_00104
-
peripheral blood lymphocytes
-
Qi Ming
./.
1
05
c.655G>T
-
p.Asp219Tyr
-
-
GenBank
FH_00167
NA
unknown
-
Qi Ming
./.
1
05
c.671_672del
-
p.Glu224ValfsX25
-
-
GenBank
FH_00127
-
blood?
-
Qi Ming
./.
1
05
c.671_672delAG
-
p.Glu224ValfsX25
Disease-associated missense FH changes map to highly conserved residues, mostly in or around the enz
-
GenBank
FH_00066
-
blood
-
Qi Ming
./.
1
05
c.674T>C
-
p.Phe225Ser
-
-
GenBank
FH_00166
NA
unknown
-
Qi Ming
./.
1
05
c.679C>T
-
p.Gln227Ter
-
-
GenBank
FH_00165
NA
unknown
-
Qi Ming
./.
2
05
c.686T>C
-
p.Ile229Thr
-,
1 more item
-
GenBank
FH_00039
-
blood
-
Qi Ming
./.
1
05
c.686_688delTCA
-
p.Ile229del
-
-
GenBank
FH_00067
-
blood
-
Qi Ming
./.
3
05
c.689A>G
-
p.Lys230Arg
-, a founder effect,
1 more item
-
GenBank
FH_00034
-
blood, peripheral blood
-
Qi Ming
./.
1
05
c.695del
-
p.Gly232AspfsX24
novel
-
GenBank
FH_00147
-
peripheral blood
-
Qi Ming
./.
5
05
c.697C>T
-
p.Arg233Cys
previously reported, a founder effect; novel, de novo, -
-
GenBank
FH_00008
-
peripheral blood lymphocytes, peripheral blood
-
Qi Ming
./.
8
05
c.698G>A
-
p.Arg233His
-, a founder effect, novel, has previously been shown to reduce the activity of FH,
2 more items
-
GenBank
FH_00009
-
blood, peripheral blood , peripheral blood lymphocytes
-
Qi Ming
./.
2
05
c.698G>T
-
p.Arg233Leu
-, R190 residue may represent a mutational hotspot.
-
GenBank
FH_00049
-
blood, peripheral blood lymphocytes
-
Qi Ming
./.
1
05
c.715G>A
-
p.Ala239Thr
-
-
GenBank
FH_00140
-
Malignant tumors
-
Qi Ming
./.
1
04
c.738+3A>G
-
p.=
-
-
GenBank
FH_00188
-
Malignant tumors
-
Qi Ming
./.
1
06
c.761A>G
-
p.Gln254Arg
novel
-
GenBank
FH_00106
-
peripheral blood lymphocytes
-
Qi Ming
./.
1
06
c.782G>T
-
p.Arg261Ile
-
-
GenBank
FH_00164
NA
unknown
-
Qi Ming
./.
1
06
c.782_788del
-
p.Arg261LysfsX21
In this case, MMAD was likely due to the FH germline mutation
-
GenBank
FH_00139
-
peripheral lymphocytes
-
Qi Ming
./.
1
06
c.795del
-
p.Met266CysfsX18
previously reported
-
GenBank
FH_00100
-
peripheral blood lymphocytes
-
Qi Ming
./.
1
06
c.820G>A
-
p.Ala274Thr
novel
-
GenBank
FH_00080
0.06
blood
-
Qi Ming
./.
1
06
c.824G>A
-
p.Gly275Glu
novel
-
GenBank
FH_00150
-
blood
-
Qi Ming
./.
2
06
c.845G>T
-
p.Gly282Val
-,
1 more item
-
GenBank
FH_00037
-
blood
-
Qi Ming
./.
1
06
c.848T>G
-
p.Leu283X
premature termination
-
GenBank
FH_00025
-
tumors
-
Qi Ming
./.
1
06
c.883G>A
-
p.Ala295Thr
-
-
GenBank
FH_00163
NA
unknown
-
Qi Ming
./.
1
07
c.905-1G>A
-
p.=
a founder effect; novel
-
GenBank
FH_00134
-
peripheral blood
-
Qi Ming
./.
1
07
c.909_910del
-
p.Leu303PhefsX8
-
-
GenBank
FH_00079
-
peripheral blood lymphocytes
-
Qi Ming
./.
1
07
c.912_918del
-
p.Phe305LeufsX22
-
-
GenBank
FH_00061
-
peripheral blood lymphocytes
-
Qi Ming
./.
1
07
c.917T>C
-
p.Val306Ala
-
-
GenBank
FH_00162
NA
unknown
-
Qi Ming
./.
1
07
c.928A>T
-
p.Asn310Tyr
-
-
GenBank
FH_00113
-
blood
-
Qi Ming
./.
1
07
c.935T>C
-
p.Phe312Ser
novel
-
GenBank
FH_00107
-
peripheral blood lymphocytes
-
Qi Ming
./.
1
07
c.937G>T
-
p.Glu313X
novel
-
GenBank
FH_00101
-
peripheral blood lymphocytes
-
Qi Ming
./.
2
07
c.939del
-
p.Ala314LeufsX15
novel
-
GenBank
FH_00098
-
peripheral blood lymphocytes
-
Qi Ming
./.
1
07
c.944T>C
-
p.Leu315Pro
novel
-
GenBank
FH_00102
-
peripheral blood lymphocytes
-
Qi Ming
./.
2
07
c.950C>T
-
p.Ala317Val
previously reported, novel
-
GenBank
FH_00103
-
peripheral blood lymphocytes, blood
-
Qi Ming
./.
4
07
c.952C>T
-
p.His318Tyr
-, new
-
GenBank
FH_00052
-
blood, peripheral blood, peripheral blood lymphocytes
-
Qi Ming
./.
1
07
c.953A>T
-
p.His318Leu
novel
-
GenBank
FH_00122
-
blood
-
Qi Ming
./.
1
07
c.965T>A
-
p.Val322Asp
-
-
GenBank
FH_00053
-
blood
-
Qi Ming
./.
1
07
c.982A>C
-
p.Met328Leu
-
-
GenBank
FH_00161
NA
unknown
-
Qi Ming
./.
1
07
c.988A>C
-
p.Thr330Pro
new;represents a novel mutation of a highly conserved amino acid of the FH protein.
-
GenBank
FH_00076
-
peripheral blood lymphocytes
-
Qi Ming
./.
1
07
c.998G>A
-
p.Cys333Tyr
previously reported
-
GenBank
FH_00094
-
peripheral blood lymphocytes
-
Qi Ming
./.
1
07
c.1002T>G
-
p.Ser334Arg
-
-
GenBank
FH_00151
-
blood
-
Qi Ming
./.
1
07
c.1004T>C
-
p.Leu335Pro
-
-
GenBank
FH_00054
-
blood
-
Qi Ming
./.
1
07
c.1018A>G
-
p.Asn340Asp
-
-
GenBank
FH_00114
-
blood
-
Qi Ming
./.
2
07
c.1020T>A
-
p.Asn340Lys
-
-
GenBank
FH_00010
-
peripheral blood, peripheral blood lymphocytes
-
Qi Ming
./.
1
07
c.1021G>C
-
p.Asp341His
-
-
GenBank
FH_00160
NA
unknown
-
Qi Ming
./.
4
07
c.1027C>T
-
p.Arg343X
previously reported, -, a mutation hot spot,
1 more item
-
GenBank
FH_00026
-
peripheral blood lymphocytes, blood?, cutaneous leiomyoma tumor, blood
-
Qi Ming
./.
2
07
c.1063G>A
-
p.Glu355Lys
-,
1 more item
-
GenBank
FH_00041
-
blood
-
Qi Ming
./.
2
07
c.1083T>A
-
p.Asn361Lys
-,
1 more item
-
GenBank
FH_00068
-
blood
-
Qi Ming
./.
1
07
c.1083_1086delTGAA
-
p.Glu362GlnfsX10
new
-
GenBank
FH_00074
-
peripheral blood
-
Qi Ming
./.
1
07
c.1084G>C
-
p.Glu362Gln
in a highly conserved domain of the protein
-
GenBank
FH_00145
-
blood
-
Qi Ming
./.
2
07
c.1093A>G
-
p.Ser365Gly
-, located in the signature sequence motif
-
GenBank
FH_00011
-
blood, peripheral blood
-
Qi Ming
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