Global Variome shared LOVD
ASL (argininosuccinate lyase)
LOVD v.3.0 Build 29 [
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Curators:
Johan den Dunnen
and
Global Variome, with Curator vacancy
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Unique variants in the ASL gene
The variants shown are described using the NM_000048.3 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 = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
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. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
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
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
association
unclassified
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
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
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
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)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
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.
51 entries on 1 page. Showing entries 1 - 51.
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Legend
How to query
Effect
Reported
Exon
DNA change (cDNA)
RNA change
Protein
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Owner
+/.
1
1_17
c.?
r.(?)
p.?
-
pathogenic
g.?
-
-
-
ASL_000000
RNA 2nd allele reduced expression
PubMed: Barbosa 1991
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
3
3
c.35G>A
r.(?), r.35g>a
p.(Arg12Gln), p.Arg12Gln
-
pathogenic
g.65546812G>A
g.66081825G>A
ASL(NM_001024943.2):c.35G>A (p.R12Q)
-
ASL_000009
VKGL data sharing initiative Nederland
PubMed: Sampaleanu 2001
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Johan den Dunnen
,
VKGL-NL_Utrecht
,
VKGL-NL_AMC
?/.
1
-
c.37T>C
r.(?)
p.(Phe13Leu)
-
VUS
g.65546814T>C
-
ASL(NM_001024943.1):c.37T>C (p.F13L)
-
ASL_000052
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
?/.
1
-
c.130G>A
r.(?)
p.(Ala44Thr)
-
VUS
g.65546907G>A
-
-
-
ASL_000050
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/.
2
3
c.175G>A
r.175g>a
p.Glu59Lys
-
pathogenic
g.65546952G>A
g.66081965G>A
-
-
ASL_000008
enzyme activity below 2%
PubMed: Linnenbank 2002
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
4
c.257A>C
r.257a>c
p.Glu86Ala
-
pathogenic
g.65547404A>C
g.66082417A>C
-
-
ASL_000010
-
PubMed: Linnebank 2000
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
4
4
c.260A>G
r.260a>g
p.Asp87Gly
-
pathogenic
g.65547407A>G
g.66082420A>G
-
-
ASL_000011
enzyme activity below 2%
PubMed: Linnenbank 2002
,
PubMed: Walker 1997
-
-
Germline
-
-
SfaNI+
-
-
Johan den Dunnen
+/., ?/.
3
4
c.283C>T
r.(?), r.283c>u
p.(Arg95Cys), p.Arg95Cys
-
pathogenic, VUS
g.65547430C>T
g.66082443C>T
-
-
ASL_000007
enzyme activity ~1%; sporadic, consanguineous parents
PubMed: Walker 1990
,
OMIM:var0001
-
rs28940585
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
5
c.292del
r.[292_348del, 29del]
p.[del19, fs*]
-
pathogenic
g.65547867del
g.66082880del
-
-
ASL_000012
enzyme activity below 2%
PubMed: Linnenbank 2002
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
5
c.299T>C
r.299del
p.Ile100Thr
-
pathogenic
g.65547874T>C
g.66082887T>C
-
-
ASL_000013
-
PubMed: Linnenbank 2002
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-?/.
1
-
c.309G>A
r.(?)
p.(Thr103=)
-
likely benign
g.65547884G>A
g.66082897G>A
ASL(NM_001024943.1):c.309G>A (p.T103=)
-
ASL_000043
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
2
5
c.331C>T
r.331c>u
p.Arg111Trp
-
pathogenic
g.65547906C>T
g.66082919C>T
-
-
ASL_000014
-
PubMed: Barbosa 1991
-
-
Germline
-
-
FokI+
-
-
Johan den Dunnen
+/.
1
5
c.337C>T
r.337c>u
p.Arg113Trp
-
pathogenic
g.65547912C>T
g.66082925C>T
-
-
ASL_000016
-
PubMed: Linnebank 2000
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
7
5
c.346C>T
r.(?), r.292_348del
p.(Gln116*), p.[Gln116*, del]
-
pathogenic, pathogenic (recessive)
g.65547921C>T
g.66082934C>T
Q116X
-
ASL_000015
enzyme activity below 2%
PubMed: Häberle and Koch 2004
,
PubMed: Linnenbank 2002
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
6
c.392C>T
r.392c>u
p.Thr131Met
-
pathogenic
g.65548107C>T
g.66083120C>T
-
-
ASL_000017
enzyme activity below 2%
PubMed: Linnenbank 2002
-
-
Germline
-
-
-
-
-
Johan den Dunnen
?/.
1
-
c.436C>T
r.(?)
p.(Arg146Trp)
-
VUS
g.65548151C>T
-
ASL(NM_001024943.1):c.436C>T (p.R146W)
-
ASL_000051
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
19
6i
c.446+1G>A
r.349_446del, r.spl?
p.?, p.del21
-
pathogenic
g.65548162G>A
g.66083175G>A
ASL(NM_001024943.1):c.446+1G>A, ASL(NM_001024943.2):c.446+1G>A, IVS5+1G>A
-
ASL_000018
enzyme activity below 2%, VKGL data sharing initiative Nederland
PubMed: Linnenbank 2002
,
OMIM:var0003
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Johan den Dunnen
,
VKGL-NL_Rotterdam
,
VKGL-NL_Utrecht
,
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
+/.
1
-
c.447-1G>A
r.spl?
p.?
-
pathogenic
g.65551571G>A
g.66086584G>A
ASL(NM_001024943.2):c.447-1G>A
-
ASL_000044
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
+/.
1
7
c.461T>C
r.461u>c
p.Leu154Pro
-
pathogenic
g.65551586T>C
g.66086599T>C
-
-
ASL_000019
-
PubMed: Linnenbank 2002
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
7
c.476C>A
r.476c>a
p.Thr159Asn
-
pathogenic
g.65551601C>A
g.66086614C>A
-
-
ASL_000020
enzyme activity below 2%
PubMed: Linnenbank 2002
-
-
Germline
-
-
-
-
-
Johan den Dunnen
?/.
1
-
c.502C>T
r.(?)
p.(Arg168Cys)
-
VUS
g.65551627C>T
g.66086640C>T
-
-
ASL_000040
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/., +?/., ?/.
12
8
c.532G>A
r.(?), r.532g>a
p.(Val178Met), p.Val178Met
-
likely pathogenic, pathogenic, VUS
g.65551738G>A
g.66086751G>A
ASL(NM_001024943.2):c.532G>A (p.V178M)
-
ASL_000021
1 heterozygous, no homozygous;
Clinindb (India)
, enzyme activity 8 %, enzyme activity below 2%,
1 more item
PubMed: Linnenbank 2002
,
PubMed: Linnenbank 2002
,
PubMed: Kleijer 2002
,
OMIM:var0005
,
1 more item
-
rs28941473
CLASSIFICATION record, Germline
-
1/2794 individuals
-
-
-
Johan den Dunnen
,
VKGL-NL_Groningen
,
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
,
Mohammed Faruq
+/.
1
8
c.545G>A
r.545g>a
p.Arg182Gln
-
pathogenic
g.65551751G>A
g.66086764G>A
-
-
ASL_000022
enzyme activity below 2%
PubMed: Linnenbank 2002
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-/.
2
8
c.556C>A
r.(?)
p.(=), p.(Arg186=)
-
benign
g.65551762C>A
g.66086775C>A
Arg186Arg, ASL(NM_001024943.1):c.556C>A (p.R186=)
-
ASL_000001
VKGL data sharing initiative Nederland
PubMed: Mitchell 2009
-
-
CLASSIFICATION record, Germline
-
1/94
-
-
-
Johan den Dunnen
,
VKGL-NL_Rotterdam
+/.
1
8
c.575_580dup
r.575_580dup
p.ins2
-
pathogenic
g.65551781_65551786dup
g.66086794_66086799dup
580insAGCGGA
-
ASL_000023
enzyme activity below 2%
PubMed: Linnenbank 2002
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
2
8
c.578G>A
r.(?), r.578g>a
p.Arg193Gln
-
pathogenic
g.65551784G>A
g.66086797G>A
-
-
ASL_000024
enzyme activity 6 %
PubMed: Barbosa 1991
,
PubMed: Linnenbank 2002
,
PubMed: Kleijer 2002
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-/.
3
8i
c.602+13C>T
r.(=), r.(?)
p.(=)
-
benign
g.65551821C>T
g.66086834C>T
ASL(NM_001024943.2):c.602+13C>T
-
ASL_000002
VKGL data sharing initiative Nederland
PubMed: Mitchell 2009
-
rs12536292
CLASSIFICATION record, Germline
-
3/94
-
-
-
Johan den Dunnen
,
VKGL-NL_AMC
?/.
1
-
c.688A>G
r.(?)
p.(Met230Val)
ACMG
VUS
g.65552748A>G
g.66087761A>G
-
-
ASL_000049
-
-
-
rs143957662
Germline
-
-
-
-
-
Andreas Laner
+/.
2
10i
c.718+5G>A
r.656_718del
p.del19
-
pathogenic
g.65552783G>A
g.66087796G>A
IVS9+5G>A
-
ASL_000025
enzyme activity below 2%
PubMed: Linnenbank 2002
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-/., -?/.
3
10i
c.718+14A>T
r.(=), r.(?)
p.(=)
-
benign, likely benign
g.65552792A>T
g.66087805A>T
ASL(NM_001024943.2):c.718+14A>T
-
ASL_000003
VKGL data sharing initiative Nederland
PubMed: Mitchell 2009
-
-
CLASSIFICATION record, Germline
-
2/94
-
-
-
Johan den Dunnen
,
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
+/.
1
-
c.721G>A
r.(?)
p.(Glu241Lys)
-
pathogenic (recessive)
g.65553796G>A
g.66088809G>A
E241K
-
ASL_000041
-
PubMed: Häberle and Koch 2004
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
11
c.762C>A
r.(?)
p.Ser254Arg
-
pathogenic
g.65553837C>A
g.66088850C>A
-
-
ASL_000026
enzyme activity below 2%
PubMed: Linnenbank 2002
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-?/.
1
-
c.837G>C
r.(?)
p.(Thr279=)
-
likely benign
g.65554081G>C
g.66089094G>C
ASL(NM_001024943.1):c.837G>C (p.T279=)
-
ASL_000047
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/., ?/.
10
12
c.857A>G
r.(?), r.857a>g
p.(Gln286Arg), p.Gln286Arg
-
pathogenic, VUS
g.65554101A>G
g.66089114A>G
-
-
ASL_000008, ASL_000027
2 heterozygous, no homozygous;
Clinindb (India)
, enzyme activity 6 %, sporadic, consanguineous parents,
2 more items
PubMed: Barbosa 1991
,
PubMed: Linnenbank 2002
,
PubMed: Kleijer 2002
,
PubMed: Sampaleanu 2001
,
3 more items
-
rs28941472
Germline
-
2/2795 individuals
HpaII+, NciI+
-
-
Johan den Dunnen
,
Mohammed Faruq
+/.
1
12
c.889C>T
r.889c>u
p.Arg297Trp
-
pathogenic
g.65554133C>T
g.66089146C>T
-
-
ASL_000028
enzyme activity below 2%
PubMed: Linnenbank 2002
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-/.
2
13
c.921T>C
r.921u>c
p.=
-
benign
g.65554265T>C
g.66089278T>C
-
-
ASL_000029
-
PubMed: Stadler 2001
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
2
13
c.925G>A
r.925g>a
p.Gly309Arg
-
pathogenic
g.65554269G>A
g.66089282G>A
-
-
ASL_000030
enzyme activity below 2%
PubMed: Linnenbank 2002
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-/.
2
13i
c.978+30C>T
r.(?)
p.(=)
-
benign
g.65554352C>T
g.66089365C>T
-
-
ASL_000004
-
PubMed: Mitchell 2009
-
rs160647
Germline
-
67/94
-
-
-
Johan den Dunnen
+/.
2
14
c.1045_1057del
r.979_1062del, r.[979_1062del, 1045_1057del]
p.(del28), p.[del28, fs*]
-
pathogenic
g.65554665_65554677del
g.66089678_66089690del
1044del13
-
ASL_000031
-
PubMed: Barbosa 1991
,
PubMed: Walker 1997
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
-
c.1060C>T
r.(?)
p.(Gln354*)
ACMG
pathogenic
g.65554680C>T
g.66089693C>T
-
-
ASL_000038
-
PubMed: Trujillano 2017
-
-
Germline
-
-
-
-
-
Daniel Trujillano
-/.
1
-
c.1062+16C>G
r.(=)
p.(=)
-
benign
g.65554698C>G
g.66089711C>G
ASL(NM_001024943.2):c.1062+16C>G
-
ASL_000039
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/.
2
15
c.1122dup
r.1122dup
p.(Tyr375LeufsTer99)
-
pathogenic
g.65557052dup
g.66092065dup
1121insC
-
ASL_000032
-
PubMed: Stadler 2001
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/., ?/.
3
15
c.1135C>T
r.(?), r.1135c>u
p.(Arg379Cys), p.Arg379Cys
-
pathogenic, VUS
g.65557065C>T
g.66092078C>T
-
-
ASL_000033
enzyme activity 21 %
PubMed: Linnenbank 2002
,
PubMed: Kleijer 2002
,
OMIM:var0006
-
rs28940287
Germline
-
-
-
-
-
Johan den Dunnen
+/., ?/.
5
16
c.1153C>T
r.(?), r.1153c>u
p.(Arg385Cys), p.Arg385Cys
-
pathogenic, VUS
g.65557553C>T
g.66092566C>T
-
-
ASL_000033
enzyme activity 12 %, enzyme activity 7 %
PubMed: Linnenbank 2002
,
PubMed: Kleijer 2002
,
OMIM:var0004
-
rs28940286
Germline
-
-
-
-
-
Johan den Dunnen
-/., -?/.
3
16
c.1164C>T
r.(?)
p.(=), p.(His388=)
-
benign, likely benign
g.65557564C>T
g.66092577C>T
ASL(NM_001024943.2):c.1164C>T (p.H388=), His388His
-
ASL_000005
VKGL data sharing initiative Nederland
PubMed: Mitchell 2009
-
-
CLASSIFICATION record, Germline
-
2/94
-
-
-
Johan den Dunnen
,
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
+/.
2
16
c.1193C>A
r.1193c>a
p.Ala398Asp
-
pathogenic
g.65557593C>A
g.66092606C>A
-
-
ASL_000034
enzyme activity below 2%
PubMed: Linnenbank 2002
,
PubMed: Walker 1997
-
-
Germline
-
-
HaeIII-
-
-
Johan den Dunnen
-/.
2
16i
c.1251-47G>A
r.(?)
p.(=)
-
benign
g.65557708G>A
g.66092721G>A
-
-
ASL_000006
-
PubMed: Mitchell 2009
-
rs2292938
Germline
-
1/94
-
-
-
Johan den Dunnen
+/.
2
17
c.1275C>T
r.1275c>u
p.=
-
pathogenic
g.65557779C>T
g.66092792C>T
-
-
ASL_000035
enzyme activity 21 %
PubMed: Linnenbank 2002
,
PubMed: Kleijer 2002
-
-
Germline
-
-
-
-
-
Johan den Dunnen
?/.
1
-
c.1297A>C
r.(?)
p.(Ser433Arg)
-
VUS
g.65557801A>C
g.66092814A>C
-
-
ASL_000048
1 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs796051928
Germline
-
1/2795 individuals
-
-
-
Mohammed Faruq
+/.
1
17
c.1331C>T
r.1331c>u
p.Ala444Val
-
pathogenic
g.65557835C>T
g.66092848C>T
-
-
ASL_000036
-
PubMed: Linnenbank 2002
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
2
17
c.1360C>T
r.1360c>u
p.Gln454*
-
pathogenic
g.65557864C>T
g.66092877C>T
-
-
ASL_000037
-
PubMed: Barbosa 1991
-
-
Germline
-
-
ScrfI-
-
-
Johan den Dunnen
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