Full data view for gene CLCN1

Information The variants shown are described using the NM_000083.2 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
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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     

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Population     

Age at death     

VIP     

Data_av     

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Owner     
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Unknown - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - Zhang 1996 - - Germline - - - - - DNA SEQ - - ? - Zhang 1996 - - - - - - - - - 1 Johan den Dunnen
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Unknown - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - Colding-Jorgensen 2003 - - Germline - - - - - DNA SEQ - - ? - Colding-Jorgensen 2003 - - - - - - - - - 1 Johan den Dunnen
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Unknown - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - Meyer-Kleine 1995 - - Germline - - - - - DNA SEQ - - ? - Meyer-Kleine 1995 - - - - - - - - - 1 Johan den Dunnen
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Unknown - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - Sun 2001 - - Germline - - - - - DNA SEQ - - ? - Sun 2001 - - - - - - - - - 1 Johan den Dunnen
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Unknown - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - Meyer-Kleine 1995 - - Germline - - - - - DNA SEQ - - ? - Meyer-Kleine 1995 - - - - - - - - - 1 Johan den Dunnen
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Unknown - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - Meyer-Kleine 1995 - - Germline - - - - - DNA SEQ - - ? - Meyer-Kleine 1995 - - - - - - - - - 1 Johan den Dunnen
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Unknown - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - Meyer-Kleine 1995 - - Germline - - - - - DNA SEQ - - ? - Meyer-Kleine 1995 - - - - - - - - - 1 Johan den Dunnen
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Unknown - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - Sun 2001 - - Germline - - - - - DNA SEQ - - ? - Sun 2001 - - - - - - - - - 1 Johan den Dunnen
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Unknown - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - Sangiuolo 1997 - - Germline - - - - - DNA SEQ - - ? - Sangiuolo 1997 - - - - - - - - - 1 Johan den Dunnen
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Unknown - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - George 1994; Meyer-Kleine 1995; Zhang 1996; Plassart-Schiess 1998; Sangiuolo 1998; Papponen 1999 - - Germline - - - - - DNA SEQ - - ? - George 1994; Meyer-Kleine 1995; Zhang 1996; Plassart-Schiess 1998; Sangiuolo 1998; Papponen 1999 - - - - - - - - - 1 Johan den Dunnen
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Paternal (confirmed) - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - Plassart-Schiess 1998 - - Germline - - - - - DNA SEQ - - ? - Plassart-Schiess 1998 - - - - - - - - - 1 Johan den Dunnen
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Maternal (confirmed) - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - Plassart-Schiess 1998 - - Germline - - - - - DNA SEQ - - ? - Plassart-Schiess 1998 - - - - - - - - - 1 Johan den Dunnen
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Both (homozygous) - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - - - - Germline - - - - - DNA SEQ - - myotonia 55921.1 Leiden, unpublished - - - Netherlands - - - - - 2 Johan den Dunnen
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Paternal (confirmed) - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - - - - Germline - - - - - DNA SEQ - - myotonia 57546.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Maternal (confirmed) - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - - - - Germline - - - - - DNA SEQ - - myotonia 57546.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Unknown - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - - - - Germline - - - - - DNA SEQ - - myotonia 57944.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Paternal (confirmed) - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - - - - Germline - - - - - DNA SEQ - - myotonia 60771.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Maternal (confirmed) - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - - - - Germline - - - - - DNA SEQ - - myotonia 60771.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Unknown - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - - - - Germline - - - - - DNA SEQ - - myotonia 64306.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Paternal (confirmed) - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - - - - Germline - - - - - DNA SEQ - - ? 66465.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Maternal (confirmed) - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - - - - Germline - - - - - DNA SEQ - - ? 66465.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Unknown - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - - - - Germline - - - - - DNA SEQ - - ? 67403.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Paternal (confirmed) - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - - - - Germline - - - - - DNA SEQ - - myotonia 71124.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Maternal (confirmed) - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - - - - Germline - - - - - DNA SEQ - - myotonia 71124.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Unknown - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - - - - Germline - - - - - DNA SEQ - - myotonia 71931.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Unknown - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - - - - Germline - - - - - DNA SEQ - - myotonia 72780.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Unknown - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - - - - Germline - - - - - DNA SEQ - - myotonia 74316.1 Leiden, unpublished - F - Netherlands - - - - - 2 Johan den Dunnen
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Unknown - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - - - - Germline - - - - - DNA SEQ - - myotonia 74740.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Paternal (confirmed) - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - - - - Germline - - - - - DNA SEQ - - myotonia 60589.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Maternal (confirmed) - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - - - - Germline - - - - - DNA SEQ - - myotonia 60589.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
+/? 23 c.2680C>T r.(?) p.(Arg894*) Unknown - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Birgit Neitzel
+/+ 23 c.2680C>T r.(?) p.(Arg894*) Unknown - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - - - - Germline - - - - - DNA SEQ - - myotonia congenita, autosomal recessive (Becker disease) - - - M ? Italy - - - - - 1 Raffaella Brugnoni
+/. - c.2680C>T r.(?) p.(Arg894Ter) Unknown - pathogenic g.143048771C>T g.143351678C>T CLCN1(NM_000083.2):c.2680C>T (p.R894*, p.(Arg894*)) - CLCN1_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 23 c.2680C>T r.(?) p.(Arg894*) Both (homozygous) - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - Ginjaar, unpublished - - Germline - - - - - DNA SEQ - - myotonia 55921.2 Ginjaar, unpublished - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 23 c.2680C>T r.(?) p.(Arg894*) Both (homozygous) - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - Ginjaar, unpublished - - Germline - - - - - DNA SEQ - - myotonia 60589.3 Ginjaar, unpublished - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 23 c.2680C>T r.(?) p.(Arg894*) Both (homozygous) - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - Ginjaar, unpublished - - Germline - - - - - DNA SEQ - - myotonia 60589.4 Ginjaar, unpublished - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 23 c.2680C>T r.(?) p.(Arg894*) Both (homozygous) - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - Ginjaar, unpublished - - Germline - - - - - DNA SEQ - - myotonia 60589.6 Ginjaar, unpublished - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 23 c.2680C>T r.(?) p.(Arg894*) Both (homozygous) - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - Ginjaar, unpublished - - Germline - - - - - DNA SEQ - - myotonia 60589.9 Ginjaar, unpublished - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 23 c.2680C>T r.(?) p.(Arg894*) Parent #1 - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - Ginjaar, unpublished - - Germline - - - - - DNA SEQ - - myotonia 74316.2 Ginjaar, unpublished - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 23 c.2680C>T r.(?) p.(Arg894*) Parent #1 - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - Ginjaar, unpublished - - Germline - - - - - DNA SEQ - - myotonia 80552.1 Ginjaar, unpublished - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 23 c.2680C>T r.(?) p.(Arg894*) Parent #1 - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - Ginjaar, unpublished - - Germline - - - - - DNA SEQ - - myotonia 81639.1 Ginjaar, unpublished - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 23 c.2680C>T r.(?) p.(Arg894*) Parent #1 - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - Ginjaar, unpublished - - Germline - - - - - DNA SEQ - - myotonia 98771.1 Ginjaar, unpublished - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 23 c.2680C>T r.(?) p.(Arg894*) Parent #2 - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - Ginjaar, unpublished - - Germline - - - - - DNA SEQ - - myotonia 45475.1 Ginjaar, unpublished - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 23 c.2680C>T r.(?) p.(Arg894*) Parent #2 - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 - Ginjaar, unpublished - - Germline - - - - - DNA SEQ - - myotonia 52176.1 Ginjaar, unpublished - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.2680C>T r.(?) p.(Arg894Ter) Unknown - pathogenic g.143048771C>T g.143351678C>T CLCN1(NM_000083.2):c.2680C>T (p.R894*, p.(Arg894*)) - CLCN1_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2680C>T r.(?) p.(Arg894*) Maternal (inferred) - pathogenic (recessive) g.143048771C>T g.143351678C>T - - CLCN1_000163 - - - - Germline - - - - - protein SEQ blood - myotonia - son 2-generation family, affected son and father, unaffected heterozygous carrier mother/relatives M - Russia Russian - - - - 4 Evgeniya Ivanova
+/. - c.2680C>T r.(?) p.(Arg894*) Unknown ACMG pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 ACMG: PVS1,PS3; Meyer-Kleine et al. 1995. AmJHumGenet 57: 1325; Zielonka et al. 2012. Neuromuscul Dis 22: 355 - - rs55960271 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+/. - c.2680C>T r.(?) p.(Arg894*) Unknown ACMG pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 ACMG: PVS1,PS3; Meyer-Kleine et al. 1995. AmJHumGenet 57: 1325; Zielonka et al. 2012. Neuromuscul Dis 22: 355 - - rs55960271 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+/. - c.2680C>T r.(?) p.(Arg894*) Unknown ACMG pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 ACMG: PVS1,PS3; Meyer-Kleine et al. 1995. AmJHumGenet 57: 1325; Zielonka et al. 2012. Neuromuscul Dis 22: 355 - - rs55960271 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+/. - c.2680C>T r.(?) p.(Arg894*) Unknown ACMG pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 ACMG: PVS1,PS3; no second variant detected in CLCN1; Meyer-Kleine et al. 1995. AmJHumGenet 57: 1325; Zielonka et al. 2012. Neuromuscul Dis 22: 355 - - rs55960271 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+/. - c.2680C>T r.(?) p.(Arg894*) Unknown ACMG pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 ACMG grading: PVS1,PS3; Meyer-Kleine et al. 1995. AmJHumGenet 57: 1325; Zielonka et al. 2012. Neuromuscul Dis 22: 355 - - rs55960271 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+/. - c.2680C>T r.(?) p.(Arg894*) Both (homozygous) ACMG pathogenic g.143048771C>T - - - CLCN1_000163 ACMG grading: PVS1,PS3,PM3,PP1 George et al. 1994. Hum Mol Genet 3: 2071; Meyer-Kleine et al. 1995. Am J Hum Genet 57: 1325; Papponen et al. 2008. Muscle Nerve 37: 317; Tincheva et al. 2016. Neuromuscul 26: 675 - rs55960271 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+?/. - c.2680C>T r.(?) p.(Arg894*) Unknown - likely pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 2 Johan den Dunnen
+/. - c.2680C>T r.(?) p.(Arg894*) Both (homozygous) ACMG pathogenic g.143048771C>T - - - CLCN1_000163 ACMG grading: PVS1,PS3,PM3,PP1; George et al. 1994. Hum Mol Genet 3: 2071; Meyer-Kleine et al. 1995. Am J Hum Genet 57: 1325; Papponen et al. 2008. Muscle Nerve 37: 317; Tincheva et al. 2016. Neuromuscul 26: 675 - - rs55960271 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+/. - c.2680C>T r.(?) p.(Arg894Ter) Both (homozygous) - pathogenic g.143048771C>T g.143351678C>T C2680T - CLCN1_000163 - PubMed: Brugnoni 2022, Journal: Brugnoni 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - 56-gene panel myotonia Pat13 PubMed: Brugnoni 2022, Journal: Brugnoni 2022 analysis 109 patients F - Italy - - - - - 1 Johan den Dunnen
+/. - c.2680C>T r.(?) p.(Arg894Ter) Paternal (confirmed) - pathogenic (dominant) g.143048771C>T g.143351678C>T C2680T - CLCN1_000163 - PubMed: Brugnoni 2022, Journal: Brugnoni 2022 - - Germline - - - - - DNA MLPA, SEQ, SEQ-NG - 56-gene panel myotonia Pat14 PubMed: Brugnoni 2022, Journal: Brugnoni 2022 analysis 109 patients M - Italy - - - - - 1 Johan den Dunnen
+/. - c.2680C>T r.(?) p.(Arg894Ter) Both (homozygous) ACMG pathogenic (recessive) g.143048771C>T g.143351678C>T - - CLCN1_000163 ACMG PVS1, PP3, PP4, PP5 PubMed: Marinakis 2021 - rs55960271 Germline - - - - - DNA SEQ, SEQ-NG - clinical exome sequencing ? 9028 PubMed: Marinakis 2021 - F - Greece - - - - - 1 Jan Traeger-Synodinos
+/. - c.2680C>T r.(?) p.(Arg894Ter) Unknown - pathogenic g.143048771C>T - CLCN1(NM_000083.2):c.2680C>T (p.R894*, p.(Arg894*)) - CLCN1_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2680C>T r.(?) p.(Arg894Ter) Parent #2 - pathogenic (recessive) g.143048771C>T g.143351678C>T R894X - CLCN1_000163 - PubMed: Modoni 2011, Journal: Modoni 2011 - - Germline - - - - - DNA SEQ - - myotonia H0-2 PubMed: Modoni 2011, Journal: Modoni 2011 - - - Italy - - - - - 1 Johan den Dunnen
+/. - c.2680C>T r.(?) p.(Arg894Ter) Parent #2 - pathogenic (recessive) g.143048771C>T g.143351678C>T R894X - CLCN1_000163 - PubMed: Modoni 2011, Journal: Modoni 2011 - - Germline - - - - - DNA SEQ - - myotonia H0-1 PubMed: Modoni 2011, Journal: Modoni 2011 - - - Italy - - - - - 1 Johan den Dunnen
+/. - c.2680C>T r.(?) p.(Arg894Ter) Unknown - pathogenic g.143048771C>T g.143351678C>T - - CLCN1_000163 variant contributes to clinical myotonia PubMed: Granger 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - MYOP Pat6 PubMed: Granger 2022 - F - United States - - - - - 1 Johan den Dunnen
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