Unique variants in the ASL gene

Information The variants shown are described using the NM_000048.3 transcript reference sequence.

51 entries on 1 page. Showing entries 1 - 51.
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Effect     

Reported     

Exon     

AscendingDNA 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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