Full data view for gene ASS1

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

183 entries on 2 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.1168G>A r.1168g>a p.Gly390Arg Parent #1 - pathogenic (recessive) g.133374932G>A - - - ASS1_000050 no variant 2nd chromosome Kobayashi ASH1989 A201, {Kobayashi 1990}, PubMed: Kobayashi 1990, OMIM:var0008 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CTLN1 PatLP PubMed: Kobayashi 1990 - - - Japan - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A G390R - ASS1_000050 plasma citrulline 1771 umol/l PubMed: Vilaseca 2001 - - Germline - - - - - DNA SEQ - - CTLN1 Pat2 PubMed: Vilaseca 2001 - - - Morocco - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Haberle 2002 - - Germline - - - - - DNA SEQ - - CTLN1 Pat4 PubMed: Haberle 2002 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 2259 μmol/L PubMed: Gao 2003 - - Germline - - - - - DNA SEQ - - CTLN1 Pat431 PubMed: Gao 2003 - - - Israel - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 3773 μmol/L PubMed: Gao 2003 - - Germline - - - - - DNA SEQ - - CTLN1 Pat521 PubMed: Gao 2003 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 1633 μmol/L PubMed: Gao 2003 - - Germline - - - - - DNA SEQ - - CTLN1 Pat552 PubMed: Gao 2003 - - - Austria Turkey - - - - 1 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A - - - ASS1_000050 plasma citrulline 3817 μmol/L PubMed: Gao 2003 - - Germline - - - - - DNA SEQ - - CTLN1 Pat592 PubMed: Gao 2003 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.1168g>a p.Gly390Arg Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - Kobayashi ASH1989 A201, {Kobayashi 1990}, PubMed: Kobayashi 1990, PubMed: Kobayashi 1994, OMIM:var0009 - - Germline - - - - - DNA SEQ - - CTLN1 PatSD PubMed: Kobayashi 1990, PubMed: Kobayashi 1994 - - - United States - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.1168g>a p.Gly390Arg Parent #2 - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 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
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 1556 μmol/L PubMed: Gao 2003 - - Germline - - - - - DNA SEQ - - CTLN1 Pat523 PubMed: Gao 2003 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.1168g>a p.Gly390Arg Paternal (confirmed) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 1200 μmol/L PubMed: Gao 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CTLN1 Pat440 PubMed: Gao 2003 - - - Canada Germany - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 5042 μmol/L PubMed: Gao 2003 - - Germline - - - - - DNA SEQ - - CTLN1 Pat590 PubMed: Gao 2003 - - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A - G390R - ASS1_000050 cord blood plasma citrulline 88 umol/l PubMed: Vilaseca 2001 - - Germline - - - - - DNA SEQ - - CTLN1 Pat3 PubMed: Vilaseca 2001 - - - Morocco - - - - - 1 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Parent #2 - pathogenic (recessive) g.133374932G>A - - - ASS1_000050 plasma citrulline 931 μmol/L PubMed: Gao 2003 - - Germline - - - - - DNA SEQ - - CTLN1 Pat591 PubMed: Gao 2003 - - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Unknown - pathogenic g.133374932G>A g.130499545G>A ASS1(NM_000050.4):c.1168G>A (p.G390R) - ASS1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A G390R - ASS1_000050 - PubMed: Haberle 2004 - - Germline - - - - - DNA SEQ - - CTLN1 Fam8 PubMed: Haberle 2004 prenatal diagnosis, fetus affected - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A G390R - ASS1_000050 - PubMed: Haberle 2004 - - Germline - - - - - DNA SEQ - - CTLN1 Fam9 PubMed: Haberle 2004 prenatal diagnosis, fetus affected - - Turkey - - - - - 1 Johan den Dunnen
+?/. - c.1168G>A r.(?) p.(Gly390Arg) Parent #1 - likely pathogenic g.133374932G>A g.130499545G>A - - ASS1_000050 7 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121908641 Germline - 7/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 7 Mohammed Faruq
+/. - c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Martin-Hernandez 2014 - - Germline - - - - - DNA SEQ - - ? Pat46 PubMed: Martin-Hernandez 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Martin-Hernandez 2014 - - Germline - - - - - DNA SEQ - - ? Pat96 PubMed: Martin-Hernandez 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Parent #2 - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Martin-Hernandez 2014 - - Germline - - - - - DNA SEQ - - ? Pat41 PubMed: Martin-Hernandez 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Parent #2 - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 1785 umol/l PubMed: Vilaseca 2001, PubMed: Martin-Hernandez 2014 - - Germline - - - - - DNA SEQ - - ? Pat4;Pat66 PubMed: Vilaseca 2001, PubMed: Martin-Hernandez 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Parent #2 - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Martin-Hernandez 2014 - - Germline - - - - - DNA SEQ - - ? Pat99 PubMed: Martin-Hernandez 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1168G>A r.1168g>a p.Gly390Arg Maternal (confirmed) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 3839 μmol/L PubMed: Gao 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CTLN1 Pat436 PubMed: Gao 2003 - - - United States Germany - - - - 1 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Maternal (confirmed) - pathogenic (recessive) g.133374932G>A - - - ASS1_000050 plasma citrulline 1504 μmol/L PubMed: Gao 2003 - - Germline - - - - - DNA SEQ - - CTLN1 Pat659 PubMed: Gao 2003 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1168G>A r.1168g>a p.Gly390Arg Parent #2 - pathogenic (recessive) g.133374932G>A - - - ASS1_000050 - PubMed: Kobayashi 1990 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CTLN1 PatBSm PubMed: Kobayashi 1990 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.1168G>A r.1168g>a p.Gly390Arg Parent #2 - pathogenic (recessive) g.133374932G>A - - - ASS1_000050 plasma citrulline elevated PubMed: Kobayashi 1991, PubMed: Kobayashi 1994 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CTLN1 PatMR PubMed: Kobayashi 1991, PubMed: Kobayashi 1994 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Parent #2 - pathogenic (recessive) g.133374932G>A - - - ASS1_000050 - PubMed: Haberle 2003 - - Germline - - - - - DNA SEQ - - CTLN1 Pat5 PubMed: Saner 2003, PubMed: Haberle 2003 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Parent #2 - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 16405 μmol/L PubMed: Diez-Fernandez 2016 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2016 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Parent #2 - pathogenic (recessive) g.133374932G>A - G390R - ASS1_000050 - PubMed: Kleijer 2006 - - Germline - - - - - DNA SEQ - - CTLN1 - PubMed: Kleijer 2006 prenatal - - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A G390R - ASS1_000050 - PubMed: Kleijer 2006 - - Germline - - - - - DNA SEQ - - CTLN1 - PubMed: Kleijer 2006 prenatal - - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A G390R - ASS1_000050 - PubMed: Kleijer 2006 - - Germline - - - - - DNA SEQ - - CTLN1 - PubMed: Kleijer 2006 prenatal - - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A G390R - ASS1_000050 - PubMed: Kleijer 2006 - - Germline - - - - - DNA SEQ - - CTLN1 - PubMed: Kleijer 2006 prenatal - - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A G390R - ASS1_000050 - PubMed: Kleijer 2006 - - Germline - - - - - DNA SEQ - - CTLN1 - PubMed: Kleijer 2006 prenatal - - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Parent #1 - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 unknown variant 2nd chromosome PubMed: Miller 2014 - - Germline - - - - - DNA SEQ - - CTLN1 Pat8 PubMed: Miller 2014 family, patient and prenatal test - - United States - - - - - 1 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Miller 2014 - - Germline - - - - - DNA SEQ - - CTLN1 Pat10 PubMed: Miller 2014 family, patient and prenatal test - - United States - - - - - 1 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Parent #1 - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Miller 2014 - - Germline - - - - - DNA SEQ - - CTLN1 Pat15 PubMed: Miller 2014 family, patient and prenatal test - - United States - - - - - 1 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Miller 2014 - - Germline - - - - - DNA SEQ - - CTLN1 Pat25 PubMed: Miller 2014 family, patient and prenatal test - - United States - - - - - 1 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Parent #2 - pathogenic (recessive) g.133374932G>A - - - ASS1_000050 - PubMed: Miller 2014 - - Germline - - - - - DNA SEQ - - CTLN1 Pat14 PubMed: Miller 2014 family, patient and prenatal test - - United States - - - - - 1 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Parent #2 - pathogenic (recessive) g.133374932G>A - - - ASS1_000050 - PubMed: Miller 2014 - - Germline - - - - - DNA SEQ - - CTLN1 Pat28 PubMed: Miller 2014 family, patient and prenatal test - - United States - - - - - 1 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Parent #1 - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 citrulline level 480–1500 uM; citruline enzyme activity 0 nM/min/mg protein PubMed: Dimmock 2008 - - Germline - - - - - DNA SEQ - - CTLN1 Pat1 PubMed: Dimmock 2008 - F - United States Europe - - - - 1 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Parent #1 - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 citrulline level 350–1000 uM PubMed: Dimmock 2008 - - Germline - - - - - DNA SEQ - - CTLN1 Pat5 PubMed: Dimmock 2008 - M - United States - - - - - 1 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Parent #2 - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - 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.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Larovere 2009 - - Germline - - - - - DNA SEQ - - CTLN1 Fam1PatII1 PubMed: Larovere 2009 2-generation family, 1 affected, unaffected heterozygous parents F - Argentina - <00y01m - - - 1 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Larovere 2009 - - Germline - - - - - DNA SEQ - - CTLN1 Fam2PatII2 PubMed: Larovere 2009 2-generation family, 2 affected sisters, unaffected heterozygous parents F - Argentina - <00y01m - - - 2 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Larovere 2009 - - Germline - - - - - DNA SEQ - - CTLN1 Fam3PatII1 PubMed: Larovere 2009 2-generation family, 1 affected, unaffected heterozygous parents M - Argentina - <00y01m - - - 1 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Larovere 2009 - - Germline - - - - - DNA SEQ - - CTLN1 Fam4PatII1 PubMed: Larovere 2009 2-generation family, 1 affected, unaffected heterozygous parents F - Argentina - <00y01m - - - 1 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Larovere 2009 - - Germline - - - - - DNA SEQ - - CTLN1 Fam5PatIII1 PubMed: Larovere 2009 3-generation family, 1 affected, unaffected heterozygous parents/relatives F - Argentina - <00y01m - - - 1 Johan den Dunnen
+/. - c.1168G>A r.(?) p.(Gly390Arg) Parent #1 - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Faghfoury 2011 - - Germline - - - - - DNA SEQ - - ? PatB - - M no Canada Portugal - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 2653 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 newborn screening - - Germany - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 818 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Germany - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Parent #1 - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Germany - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline level high PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Germany - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Germany - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Parent #1 - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 unknown variant 2nd chromosome PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 1690 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Parent #1 - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 unknown variant 2nd chromosome PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 1164 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 2040 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 1868 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Parent #1 - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 590 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 906 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 4681 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 1250 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - India - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 1310 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - India - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 637 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - India - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 1350 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - India - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - India - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Parent #1 - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 unknown variant 2nd chromosome PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - India - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 3720 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - India - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 1900 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - India - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline level very high PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - India - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 1350 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - India - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 1250 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - India - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 735 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - India - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 3035 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - India - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 4037 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - India - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 2135 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - India - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 2557 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - India - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 509 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - India - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - India - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Parent #1 - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 1730 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - France - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Parent #1 - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 unknown variant 2nd chromosome; plasma citrulline 837 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - France - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 2460 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - France - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 3700 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - France - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Parent #1 - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - France - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 1158 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - France - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - France - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 plasma citrulline 4550 umol/L PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Italy - - - - - 1 Johan den Dunnen
+/. 15 c.1168G>A r.(?) p.(Gly390Arg) Both (homozygous) - pathogenic (recessive) g.133374932G>A g.130499545G>A - - ASS1_000050 - PubMed: Diez-Fernandez 2017 - - Germline - - - - - DNA SEQ - - CTLN1 patient PubMed: Diez-Fernandez 2017 - - - Italy - - - - - 1 Johan den Dunnen
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