Full data view for gene ASS1

Information The variants shown are described using the NM_000050.4 transcript reference sequence.

939 entries on 10 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-6+8C>T r.(=) p.(=) Unknown - VUS g.133325728C>T g.130450341C>T ASS1(NM_000050.4):c.-6+8C>T (p.(=)) - ASS1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-5-13C>T r.(=) p.(=) Unknown - benign g.133327598C>T g.130452211C>T ASS1(NM_000050.4):c.-5-13C>T - ASS1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.-5-10C>G r.(-5_35del) p.)? Parent #2 - pathogenic (recessive) g.133327601C>G g.130452214C>G - - ASS1_000154 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Italy - - - - - 1 Johan den Dunnen
+/. 2 c.-4C>T r.(?) p.? Parent #1 - pathogenic g.133327612C>T - int0 -4C>T - ASS1_000055 described as nonsense variant; combination of variants not reported PubMed: Engel 2009 - - Germline - - - - - DNA SEQ - - CTLN1 - - - - - Germany - - - - - 1 Johan den Dunnen
+/. 3 c.-4C>T r.(?) p.? Parent #2 - pathogenic (recessive) g.133327612C>T g.130452225C>T - - ASS1_000055 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 newborn screening - - Germany - - - - - 1 Johan den Dunnen
+/. 10i_12i c.(c.688+1_689-1)_(838+1_839-1)del r.689_838del p.? Both (homozygous) - pathogenic g.(133352349_133355102)_(133355837_133364719)del - - - ASS1_000008 combination of variants not reported PubMed: Engel 2009 - - Germline - - - - - DNA, RNA SEQ - - CTLN1 - - - - - Poland - - - - - 1 Johan den Dunnen
+/. _1_2i c.-356_(-6+1_-5-1){0} r.0? p.0? Parent #1 - pathogenic (recessive) g.(?_133320094)_(133325721_133327610)del g.(?_130444707)_(130450334_130452223)del del ex1-2 - ASS1_000206 - PubMed: Lee 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - clincal WES ? Pat34 PubMed: Lee 2014 - - - United States - - - - - 1 Johan den Dunnen
+/. _1_1i c.-356_-68+75{0} r.(=|red) p.(=|red) Both (homozygous) - pathogenic (recessive) g.133319980_133320457del g.130444593_130445070del hg19 133319979-133320456del - ASS1_000205 variant predicted to give significantly reduced expression PubMed: Imagawa 2020 - - Germline - - - - - DNA PCR, SEQ - - CTLN1 Fam1PatIII1 PubMed: Imagawa 2020 3-generation family, 1 affected, unaffected heterozygous parents/relatives F yes United States Romani - - - - 1 Johan den Dunnen
+/. _1_1i c.-356_-68+75{0} r.(=|red) p.(=|red) Both (homozygous) - pathogenic (recessive) g.133319980_133320457del g.130444593_130445070del hg19 133319979-133320456del - ASS1_000205 variant predicted to give significantly reduced expression PubMed: Imagawa 2020 - - Germline - - - - - DNA PCR, SEQ - - CTLN1 Fam2PatII1 PubMed: Imagawa 2020 2-generation family, 1 affected, unaffected heterozygous parents F yes United States Romani - - - - 1 Johan den Dunnen
+/. _1_1i c.-356_-68+75{0} - p.=|0.03 Both (homozygous) - NA g.133319980_133320457del g.130444593_130445070del hg19 133319979-133320456del - ASS1_000205 expression cloning (A2058 and HepG2 cells) shows reduced reporter expression (0.033-0.036) PubMed: Imagawa 2020 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.18C>T r.(?) p.(Ser6=) Unknown - VUS g.133327633C>T - ASS1(NM_054012.4):c.18C>T (p.(Ser6=)) - ASS1_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.19G>A - p.Val7Met Parent #2 - VUS g.133327634G>A g.130452247G>A - - ASS1_000155 <0.80 no residual enzymatic ASS1 activity combined variants PubMed: Zielonka 2019 - - Germline - - - - - DNA SEQ - - CTLN1 - PubMed: Zielonka 2019 - - - - - - - - - 1 Johan den Dunnen
+?/. 2 c.34A>G r.(?) p.(Ser12Gly) Both (homozygous) ACMG likely pathogenic (recessive) g.133327649A>G g.130452262A>G - - ASS1_000136 Variant classified as per ACMG guidelines (Richards et al 2015) and to the recently developed ACMG scoring system (Tavtigian et al 2020). - - rs1283372037 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing CTLN1 3bINP-022 PubMed: Vela-Amieva 2024 - M no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
+/. 3 c.40G>A r.40g>a p.Gly14Ser Parent #1 - pathogenic (recessive) g.133327655G>A g.130452268G>A G14S - ASS1_000056 plasma citrulline 1100 umol/L Kobayashi ASH1989 A201, PubMed: Kobayashi 1990, OMIM:var0004 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CTLN1 PatIG Kobayashi ASH1989 A201, PubMed: Kobayashi 1990 - - - Japan - - - - - 1 Johan den Dunnen
+/. 2 c.40G>A r.(?) p.(Gly14Ser) Parent #2 ACMG pathogenic (recessive) g.133327655G>A g.130452268G>A - - ASS1_000056 - - ClinVar-6324 rs121908636 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing CTLN1 3bINP-015 PubMed: Vela-Amieva 2024 - F no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
+/. - c.40G>A r.(?) p.(Gly14Ser) Parent #1 - pathogenic (recessive) g.133327655G>A g.130452268G>A - - ASS1_000056 - PubMed: Haberle 2003 - - Germline - - - - - DNA SEQ - - CTLN1 Pat12 PubMed: Haberle 2003 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.40G>A r.(?) p.(Gly14Ser) Parent #2 - pathogenic (recessive) g.133327655G>A g.130452268G>A - - ASS1_000056 plasma citrulline 3809 μmol/L PubMed: Diez-Fernandez 2016 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2016 - - - Germany - - - - - 1 Johan den Dunnen
+/. 3 c.40G>A r.(?) p.(Gly14Ser) Parent #1 - pathogenic (recessive) g.133327655G>A g.130452268G>A - - ASS1_000056 plasma citrulline 1100 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 newborn screening - - Germany - - - - - 1 Johan den Dunnen
+/. 3 c.40G>A r.(?) p.(Gly14Ser) Parent #1 - pathogenic (recessive) g.133327655G>A g.130452268G>A - - ASS1_000056 plasma citrulline 941 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.40G>A r.(?) p.(Gly14Ser) Parent #1 - pathogenic (recessive) g.133327655G>A g.130452268G>A - - ASS1_000056 plasma citrulline 747 umol/L PubMed: Lee 2013 - - Germline - - - - - DNA SEQ - - CTLN1 Fam19Pat20 PubMed: Lee 2013 - F - Korea - - - - - 1 Johan den Dunnen
+/. 3 c.53C>T r.53c>u p.Ser18Leu Parent #1 - pathogenic (recessive) g.133327668C>T g.130452281C>T - - ASS1_000057 plasma citrulline elevated PubMed: Kobayashi 1991, PubMed: Kobayashi 1994, OMIM:var0011 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CTLN1 PatMR PubMed: Kobayashi 1991, PubMed: Kobayashi 1994 - - - Japan - - - - - 1 Johan den Dunnen
+/. 3 c.55T>C r.(?) p.(Cys19Arg) Maternal (confirmed) - pathogenic (recessive) g.133327670T>C g.130452283T>C - - ASS1_000058 plasma citrulline 3510 umol/L PubMed: Gao 2003 - - Germline - - - - - DNA SEQ - - CTLN1 Pat358 PubMed: Gao 2003 - - - Japan - - - - - 1 Johan den Dunnen
+/. 3 c.79C>T r.(?) p.(Gln27Ter) Both (homozygous) - pathogenic (recessive) g.133327694C>T g.130452307C>T - - ASS1_000156 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - - Arab - - - - 1 Johan den Dunnen
+/. 3 c.79C>T r.(?) p.(Gln27Ter) Parent #2 - pathogenic (recessive) g.133327694C>T g.130452307C>T - - ASS1_000156 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Argentina - - - - - 1 Johan den Dunnen
+/. 3 c.79C>T r.(?) p.(Gln27Ter) Parent #2 - pathogenic (recessive) g.133327694C>T g.130452307C>T - - ASS1_000156 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Argentina - - - - - 1 Johan den Dunnen
+/. - c.79C>T r.(?) p.(Gln27Ter) Parent #1 - pathogenic (recessive) g.133327694C>T g.130452307C>T 79T>C - ASS1_000156 - PubMed: Silvera-Ruiz 2019 - - Germline - 1/24 case chromosomes - - - DNA SEQ, SSCA - - ? FamXIVPat27 PubMed: Silvera-Ruiz 2019 - - - Argentina - - - - - 1 Johan den Dunnen
+/. - c.79C>T r.(?) p.(Gln27Ter) Parent #1 - pathogenic (recessive) g.133327694C>T g.130452307C>T 79T>C - ASS1_000156 - PubMed: Silvera-Ruiz 2019 - - Germline - 1/24 case chromosomes - - - DNA SEQ, SSCA - - ? FamXVPat28 PubMed: Silvera-Ruiz 2019 - - - Argentina - - - - - 1 Johan den Dunnen
-/. - c.99C>T r.(?) p.(Ala33=) Unknown - benign g.133327714C>T g.130452327C>T ASS1(NM_000050.4):c.99C>T (p.A33=) - ASS1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.100dup r.(?) p.(Tyr34LeufsTer29) Parent #2 - pathogenic (recessive) g.133327715dup g.130452328dup 100dupT - ASS1_000157 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Austria - - - - - 1 Johan den Dunnen
+/. - c.102T>G - p.Tyr34Ter Parent #2 - pathogenic (recessive) g.133327717T>G g.130452330T>G - - ASS1_000158 <0.20 no residual enzymatic ASS1 activity combined variants PubMed: Zielonka 2019 - - Germline - - - - - DNA SEQ - - CTLN1 - PubMed: Zielonka 2019 - - - - - - - - - 1 Johan den Dunnen
-/. - c.106-10T>G r.(=) p.(=) Unknown - benign g.133329682T>G g.130454295T>G ASS1(NM_000050.4):c.106-10T>G - ASS1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.119A>T r.(?) p.(Gln40Leu) Parent #1 - pathogenic (recessive) g.133329705A>T g.130454318A>T - - ASS1_000059 plasma citrulline 2517 umol/L PubMed: Haberle 2003 - - Germline - - - - - DNA SEQ - - CTLN1 Pat4 PubMed: Haberle 2003 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.119A>T r.(?) p.(Gln40Leu) Parent #1 - pathogenic (recessive) g.133329705A>T g.130454318A>T - - ASS1_000059 citrulline level 100–200 (109) uM PubMed: Dimmock 2008 - - Germline - - - - - DNA SEQ - - CTLN1 Pat10 PubMed: Dimmock 2008 - F - United States - - - - - 1 Johan den Dunnen
-?/. - c.132C>T r.(?) p.(Phe44=) Unknown - likely benign g.133329718C>T g.130454331C>T ASS1(NM_000050.4):c.132C>T (p.F44=) - ASS1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.133G>A r.(?) p.(Glu45Lys) Maternal (confirmed) - VUS g.133329719G>A g.130454332G>A - - ASS1_000151 - PubMed: Xiong 2022 - - Germline - - - - - DNA SEQ - - CTLN1 Pat2 PubMed: Xiong 2022 2-generation family, 1 affected, unaffected heterozygous parents M - China - - - - - 1 Johan den Dunnen
+/. 4i c.174+1G>A r.(106_174del) p.(Ala36_Lys58del) Paternal (confirmed) - pathogenic (recessive) g.133329761G>A g.130454374G>A - - ASS1_000143 plasma citrulline 961 umol/L; effect on splicing predicted from pSPL3 splicing assay PubMed: Kimani 2015 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CTLN1 Pat1 PubMed: Kimani 2015 2-generation family, 1 affected, unaffected heterozygous parents M - China - - - - - 1 Johan den Dunnen
+/. 4i c.174+1G>T r.spl p.? Parent #2 - pathogenic (recessive) g.133329761G>T g.130454374G>T IVS4+1G>T - ASS1_000061 - PubMed: Kleijer 2006 - - Germline - - - - - DNA SEQ - - CTLN1 - PubMed: Kleijer 2006 prenatal - - Netherlands - - - - - 1 Johan den Dunnen
+/. 4i c.175-1119G>A c.174_175ins175-1180_175-1112 p.Val59ProfsTer14 Maternal (confirmed) - pathogenic (recessive) g.133332669G>A g.130457282G>A g.4967G>A (Lys58ins69bpX13) - ASS1_000147 plasma citrulline 1720 umol/L PubMed: Faghfoury 2011 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? PatA PubMed: Faghfoury 2011 2-generation family, 1 affected, unaffected heterozygous parents F no Canada Portugal - - - - 1 Johan den Dunnen
+/. 4i c.175-1119G>A r.(?) p.(Lys58fs) Parent #2 - pathogenic (recessive) g.133332669G>A g.130457282G>A (Lys58_Val59ins12*) - ASS1_000147 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Canada - - - - - 1 Johan den Dunnen
+/. 4i_5i c.(174+1_175-1)_(363+1_364-1)del r.175_363del p.Val59_Lys121 Parent #1 - pathogenic (recessive) g.(133329761_133333787)_(133333977_133339497)del g.(130454374_130458400)_(130458590_130464110)del - - ASS1_000062 no variant 2nd chromosome Kobayashi ASH1989 A201, {Kobayashi 1990}, PubMed: Kobayashi 1990, OMIM:var0006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CTLN1 PatCB PubMed: Kobayashi 1990 - - yes Japan - - - - - 1 Johan den Dunnen
+/. 4i_5i c.(174+1_175-1)_(363+1_364-1)del r.del p.del Unknown - pathogenic g.(133329761_133333787)_(133333977_133339497)del - ex5 del - ASS1_000062 3-4 Kb deletion Kobayashi ASH1989 A201, PubMed: Kobayashi 1995, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CTLN1 - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 4i_5i c.(174+1_175-1)_(363+1_364-1)del r.175_363del p.Val59_Lys121 Parent #2 - pathogenic (recessive) g.(133329761_133333787)_(133333977_133339497)del g.(130454374_130458400)_(130458590_130464110)del - - ASS1_000062 - Kobayashi ASH1989 A201, PubMed: Kobayashi 1990 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CTLN1 PatKSt Kobayashi ASH1989 A201, PubMed: Kobayashi 1990 - - - Japan - - - - - 1 Johan den Dunnen
+/. 4i_5i c.(174+1_175-1)_(363+1_364-1)del r.175_363del p.Val59_Lys121 Parent #1 - pathogenic (recessive) g.(133329761_133333787)_(133333977_133339497)del g.(130454374_130458400)_(130458590_130464110)del - - ASS1_000062 - PubMed: Kobayashi 1990 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CTLN1 GM63 PubMed: Kobayashi 1990, PubMed: Kobayashi 1991, PubMed: Kobayashi 1994 - - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.190G>A r.(?) p.(Val64Ile) Parent #1 - pathogenic (recessive) g.133333803G>A g.130458416G>A - - ASS1_000159 slightly elevated PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - India - - - - - 1 Johan den Dunnen
+/. 5 c.206T>C r.(?) p.(Val69Ala) Parent #1 - pathogenic (recessive) g.133333819T>C g.130458432T>C - - ASS1_000063 plasma citrulline 2551 umol/l PubMed: Vilaseca 2001 - - Germline - - - - - DNA SEQ - - CTLN1 Pat1 PubMed: Vilaseca 2001 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.206T>C r.(?) p.(Val69Ala) Both (homozygous) - pathogenic (recessive) g.133333819T>C g.130458432T>C - - ASS1_000063 - PubMed: Martin-Hernandez 2014 - - Germline - - - - - DNA SEQ - - ? Pat3 PubMed: Martin-Hernandez 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.206T>C r.(?) p.(Val69Ala) Both (homozygous) - pathogenic (recessive) g.133333819T>C g.130458432T>C - - ASS1_000063 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.206T>C - p.Val69Ala Parent #2 - pathogenic (recessive) g.133333819T>C g.130458432T>C - - ASS1_000063 <0.30 no residual enzymatic ASS1 activity combined variants PubMed: Zielonka 2019 - - Germline - - - - - DNA SEQ - - CTLN1 - PubMed: Zielonka 2019 - - - - - - - - - 1 Johan den Dunnen
+/. - c.216C>G r.(?) p.(Phe72Leu) Both (homozygous) - pathogenic (recessive) g.133333829C>G g.130458442C>G - - ASS1_000138 citrulline level 200–400 uM PubMed: Dimmock 2008 - - Germline - - - - - DNA SEQ - - CTLN1 Pat3 PubMed: Dimmock 2008 - M - United States - - - - - 1 Johan den Dunnen
?/. - c.216C>G - p.Phe72Leu Both (homozygous) - VUS g.133333829C>G g.130458442C>G - - ASS1_000138 near normal enzymatic ASS1 activity PubMed: Zielonka 2019 - - Germline - - - - - DNA SEQ - - CTLN1 - PubMed: Zielonka 2019 - - - - - - - - - 1 Johan den Dunnen
+/. 5 c.235T>C r.(?) p.(Ser79Pro) Unknown - pathogenic g.133333848T>C g.130458461T>C - - ASS1_000064 combination of variants not reported PubMed: Engel 2009 - - Germline - - - - - DNA SEQ - - CTLN1 - - - - - Thailand - - - - - 1 Johan den Dunnen
+/. 5 c.235T>C r.(?) p.(Ser79Pro) Parent #1 - pathogenic (recessive) g.133333848T>C g.130458461T>C - - ASS1_000064 plasma citrulline 1000 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 newborn screening - - Thailand - - - - - 1 Johan den Dunnen
+/. 5 c.256C>T r.(?) p.(Arg86Cys) Unknown - pathogenic g.133333869C>T g.130458482C>T - - ASS1_000065 - PubMed: Kobayashi 1991, OMIM:var0012 - - Germline - - - - - DNA SEQ - - CTLN1 - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 4 c.256C>T r.(?) p.(Arg86Cys) Parent #1 ACMG pathogenic (recessive) g.133333869C>T g.130458482C>T - - ASS1_000065 - - 6332 rs121908644 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing CTLN1 3bINP-008 PubMed: Vela-Amieva 2024 Parents with consanguinity and consanguinity (not molecularly tested) M yes Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
+/. - c.256C>T r.(?) p.(Arg86Cys) Both (homozygous) - pathogenic (recessive) g.133333869C>T g.130458482C>T - - ASS1_000065 - PubMed: Martin-Hernandez 2014 - - Germline - - - - - DNA SEQ - - ? Pat1 PubMed: Martin-Hernandez 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.256C>T r.(?) p.(Arg86Cys) Both (homozygous) - pathogenic (recessive) g.133333869C>T g.130458482C>T - - ASS1_000065 - PubMed: Martin-Hernandez 2014 - - Germline - - - - - DNA SEQ - - ? Pat85 PubMed: Martin-Hernandez 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.256C>T r.(?) p.(Arg86Cys) Both (homozygous) - pathogenic (recessive) g.133333869C>T g.130458482C>T - - ASS1_000065 - PubMed: Martin-Hernandez 2014 - - Germline - - - - - DNA SEQ - - ? Pat86 PubMed: Martin-Hernandez 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.256C>T r.256c>u p.Arg86Cys Parent #2 - pathogenic (recessive) g.133333869C>T - - - ASS1_000065 - PubMed: Kobayashi 1991, PubMed: Kobayashi 1994 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CTLN1 GM63 PubMed: Kobayashi 1990, PubMed: Kobayashi 1991, PubMed: Kobayashi 1994 - - - Japan - - - - - 1 Johan den Dunnen
+/. 4 c.256C>T r.(?) p.(Arg86Cys) Parent #1 ACMG pathogenic (recessive) g.133333869C>T g.130458482C>T - - ASS1_000065 - - ClinVar-6332 rs121908644 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing CTLN1 3bINP-065 PubMed: Vela-Amieva 2024 - F no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
+/. 4 c.256C>T r.(?) p.(Arg86Cys) Parent #1 ACMG pathogenic (recessive) g.133333869C>T g.130458482C>T - - ASS1_000065 - - ClinVar-6332 rs121908644 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing CTLN1 3bINP-095 PubMed: Vela-Amieva 2024 - F no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
+/. 4 c.256C>T r.(?) p.(Arg86Cys) Both (homozygous) ACMG pathogenic (recessive) g.133333869C>T g.130458482C>T - - ASS1_000065 - - ClinVar-6332 rs121908644 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing CTLN1 3bINP-106 PubMed: Vela-Amieva 2024 Likely inbreeding M no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
+/. 5 c.256C>T r.(?) p.(Arg86Cys) Both (homozygous) - pathogenic (recessive) g.133333869C>T g.130458482C>T - - ASS1_000065 plasma citrulline 1437 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.256C>T r.(?) p.(Arg86Cys) Both (homozygous) - pathogenic (recessive) g.133333869C>T g.130458482C>T - - ASS1_000065 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.256C>T r.(?) p.(Arg86Cys) Both (homozygous) - pathogenic (recessive) g.133333869C>T g.130458482C>T - - ASS1_000065 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.256C>T r.(?) p.(Arg86Cys) Both (homozygous) - pathogenic (recessive) g.133333869C>T g.130458482C>T - - ASS1_000065 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Italy - - - - - 1 Johan den Dunnen
+/. - c.256C>T - p.Arg86Cys Both (homozygous) - pathogenic (recessive) g.133333869C>T g.130458482C>T - - ASS1_000065 <0.20 no residual enzymatic ASS1 activity PubMed: Zielonka 2019 - - Germline - - - - - DNA SEQ - - CTLN1 - PubMed: Zielonka 2019 - - - - - - - - - 1 Johan den Dunnen
+/. 5 c.257G>A r.257g>a p.Arg86His Both (homozygous) - likely pathogenic (recessive) g.133333870G>A g.130458483G>A - - ASS1_000066 plasma citrulline 1383 μmol/L PubMed: Gao 2003 - - Germline - - - - - DNA SEQ - - CTLN1 Pat371 PubMed: Gao 2003 - - - Japan - - - - - 1 Johan den Dunnen
+?/. - c.257G>A r.257g>a p.Arg86His Parent #1 - likely pathogenic (recessive) g.133333870G>A g.130458483G>A - - ASS1_000066 plasma citrulline 903 μmol/L PubMed: Gao 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CTLN1 Pat336 PubMed: Gao 2003, Kurasawa 1998 - - - Bolivia - - - - - 1 Johan den Dunnen
+/. 5 c.257G>A r.(?) p.(Arg86His) Parent #1 - pathogenic (recessive) g.133333870G>A g.130458483G>A - - ASS1_000066 unknown variant 2nd chromosome; plasma citrulline 893 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.262C>A r.(?) p.(Leu88Ile) Both (homozygous) - pathogenic (recessive) g.133333875C>A g.130458488C>A 262C>G (L88I) - ASS1_000139 citrulline level <1000 uM; citruline enzyme activity 0 nM/min/mg protein PubMed: Dimmock 2008 - - Germline - - - - - DNA SEQ - - CTLN1 Pat7 PubMed: Dimmock 2008 asymptomatic - - India - - - - - 1 Johan den Dunnen
+/. - c.271A>C r.(?) p.(Thr91Pro) Both (homozygous) - pathogenic (recessive) g.133333884A>C g.130458497A>C - - ASS1_000127 plasma citrulline 2417 μmol/L PubMed: Diez-Fernandez 2016 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2016 - - - India - - - - - 1 Johan den Dunnen
?/. - c.271A>C r.(?) p.(Thr91Pro) Both (homozygous) - pathogenic (recessive) g.133333884A>C g.130458497A>C - - ASS1_000127 - PubMed: Miller 2014 - - Germline - - - - - DNA SEQ - - CTLN1 Pat41 PubMed: Miller 2014 family, patient and prenatal test - - United States - - - - - 1 Johan den Dunnen
+/. - c.271A>C - p.Thr91Pro Unknown - NA g.133333884A>C g.130458497A>C T91P - ASS1_000127 cDNA expression cloning shows <0.05 argininosuccinate synthetase enzyme activity PubMed: Diez-Fernandez 2016 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.271A>C - p.Thr91Pro Both (homozygous) - pathogenic (recessive) g.133333884A>C g.130458497A>C - - ASS1_000127 <0.05 no residual enzymatic ASS1 activity PubMed: Zielonka 2019 - - Germline - - - - - DNA SEQ - - CTLN1 - PubMed: Zielonka 2019 - - - - - - - - - 1 Johan den Dunnen
+/. - c.271A>G r.(?) p.(Thr91Ala) Parent #2 - pathogenic (recessive) g.133333884A>G g.130458497A>G - - ASS1_000125 - PubMed: Martin-Hernandez 2014 - - Germline - - - - - DNA SEQ - - ? Pat84 PubMed: Martin-Hernandez 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.271A>G - p.Thr91Ala Parent #2 - pathogenic (recessive) g.133333884A>G g.130458497A>G - - ASS1_000125 <0.50 no residual enzymatic ASS1 activity combined variants PubMed: Zielonka 2019 - - Germline - - - - - DNA SEQ - - CTLN1 - PubMed: Zielonka 2019 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.282C>T r.(?) p.(Ala94=) Unknown - likely benign g.133333895C>T g.130458508C>T ASS1(NM_000050.4):c.282C>T (p.A94=) - ASS1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.285G>C - p.Arg95Ser Unknown - NA g.133333898G>C g.130458511G>C R95S - ASS1_000140 cDNA expression cloning shows no argininosuccinate synthetase enzyme activity PubMed: Diez-Fernandez 2016 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.285_286delinsTT r.(?) p.(Arg95_Pro96delinsSerSer) Both (homozygous) - pathogenic (recessive) g.133333898_133333899delinsTT g.130458511_130458512delinsTT [285G>T;286C>T] [R95S;P96S] - ASS1_000128 plasma citrulline 1718 μmol/L (ref<50) PubMed: Gao 2003 - - Germline - - - - - DNA SEQ - - CTLN1 Pat517 PubMed: Gao 2003 patient - - Turkey - - - - - 1 Johan den Dunnen
+?/. - c.286C>T - p.Pro96Ser Unknown - NA g.133333899C>T g.130458512C>T P96S - ASS1_000141 cDNA expression cloning shows 0.35 argininosuccinate synthetase enzyme activity PubMed: Diez-Fernandez 2016 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.287C>A r.(?) p.(Pro96His) Parent #1 - pathogenic (recessive) g.133333900C>A g.130458513C>A - - ASS1_000069 - PubMed: Engel 2009, PubMed: Diez-Fernandez 2016 - - Germline - - - - - DNA SEQ - - CTLN1 Fam PubMed: Engel 2009, PubMed: Diez-Fernandez 2016 family, 2 affected sibs - - Italy - - - - - 1 Johan den Dunnen
+?/. - c.287C>A - p.Pro96His Unknown - NA g.133333900C>A g.130458513C>A P96H - ASS1_000069 cDNA expression cloning shows 0.25 argininosuccinate synthetase enzyme activity PubMed: Diez-Fernandez 2016 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.287C>T r.(?) p.(Pro96Leu) Parent #1 - pathogenic (recessive) g.133333900C>T g.130458513C>T - - ASS1_000130 plasma citrulline 16405 μmol/L PubMed: Diez-Fernandez 2016 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2016 - - - France - - - - - 1 Johan den Dunnen
+/. - c.287C>T - p.Pro96Leu Unknown - NA g.133333900C>T g.130458513C>T P96L - ASS1_000130 cDNA expression cloning shows no argininosuccinate synthetase enzyme activity PubMed: Diez-Fernandez 2016 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.287C>T r.(?) p.(Pro96Leu) Parent #2 - pathogenic (recessive) g.133333900C>T g.130458513C>T - - ASS1_000130 - PubMed: Faghfoury 2011 - - Germline - - - - - DNA SEQ - - ? PatB - - M no Canada Portugal - - - - 1 Johan den Dunnen
+/. 5 c.291C>A r.(?) p.(Cys97Ter) Both (homozygous) - pathogenic (recessive) g.133333904C>A g.130458517C>A - - ASS1_000160 plasma citrulline >4000 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 newborn screening - - Switzerland - - - - - 1 Johan den Dunnen
+/. - c.291C>A - p.Cys97Ter Both (homozygous) - pathogenic (recessive) g.133333904C>A g.130458517C>A - - ASS1_000160 no residual enzymatic ASS1 activity PubMed: Zielonka 2019 - - Germline - - - - - DNA SEQ - - CTLN1 - PubMed: Zielonka 2019 - - - - - - - - - 1 Johan den Dunnen
+/. 5 c.298C>T r.(?) p.(Arg100Cys) Parent #1 - pathogenic (recessive) g.133333911C>T g.130458524C>T - - ASS1_000161 plasma citrulline 200 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Austria - - - - - 1 Johan den Dunnen
+/. 5 c.299del r.(?) p.(Arg100Profs*40) Both (homozygous) - pathogenic (recessive) g.133333912del g.130458525del - - ASS1_000070 plasma citrulline 3248 μmol/L PubMed: Gao 2003 - - Germline - - - - - DNA SEQ - - CTLN1 Pat233 PubMed: Gao 2003 - - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.299G>A r.(?) p.(Arg100His) Parent #2 - pathogenic (recessive) g.133333912G>A g.130458525G>A - - ASS1_000162 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - India - - - - - 1 Johan den Dunnen
+/. - c.299G>A - p.Arg100His Parent #1 - pathogenic (recessive) g.133333912G>A g.130458525G>A - - ASS1_000162 <0.80 no residual enzymatic ASS1 activity combined variants PubMed: Zielonka 2019 - - Germline - - - - - DNA SEQ - - CTLN1 - PubMed: Zielonka 2019 - - - - - - - - - 1 Johan den Dunnen
+/. 5 c.304del r.(?) p.(Gln102LysfsTer38) Parent #1 - pathogenic (recessive) g.133333917del g.130458530del 304delC - ASS1_000163 plasma citrulline 1800 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - France - - - - - 1 Johan den Dunnen
?/. - c.323G>T r.(?) p.(Arg108Leu) Unknown - VUS g.133333936G>T g.130458549G>T - - ASS1_000071 - - - - Germline - - - - - DNA SEQ-NG - - GA1 - PubMed: Bell 2011 Coriell sample - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 5 c.323G>T r.(?) p.(Arg108Leu) Parent #1 - pathogenic (recessive) g.133333936G>T g.130458549G>T - - ASS1_000071 - PubMed: Haberle 2002, OMIM:var0014 - - Germline - - - - - DNA SEQ - - CTLN1 Pat5 PubMed: Haberle 2002 - - - Germany - - - - - 1 Johan den Dunnen
-?/. - c.323G>T r.(?) p.(Arg108Leu) Unknown - likely benign g.133333936G>T g.130458549G>T ASS1(NM_000050.4):c.323G>T (p.R108L) - ASS1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.323G>T r.(?) p.(Arg108Leu) Unknown - benign g.133333936G>T g.130458549G>T ASS1(NM_000050.4):c.323G>T (p.R108L) - ASS1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.323G>T r.(?) p.(Arg108Leu) Unknown - likely benign g.133333936G>T - ASS1(NM_000050.4):c.323G>T (p.R108L) - ASS1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.323G>T r.(?) p.(Arg108Leu) Parent #1 - VUS g.133333936G>T g.130458549G>T - - ASS1_000071 no variant 2nd chromosome;plasma citrulline 914 umol/l PubMed: Vilaseca 2001, PubMed: Martin-Hernandez 2014 - - Germline - - - - - DNA SEQ - - ? Pat5;Pat98 PubMed: Vilaseca 2001, PubMed: Martin-Hernandez 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.323G>T r.(?) p.(Arg108Leu) Parent #1 - pathogenic (recessive) g.133333936G>T g.130458549G>T - - ASS1_000071 plasma citrulline 736 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.323G>T r.(?) p.(Arg108Leu) Parent #1 - pathogenic (recessive) g.133333936G>T g.130458549G>T - - ASS1_000071 plasma citrulline >2000 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Germany - - - - - 1 Johan den Dunnen
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