Full data view for gene CLCN1

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

46 entries on 1 page. Showing entries 1 - 46.
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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     
+?/. 4 c.501C>G r.(?) p.Phe167Leu Paternal (confirmed) - likely pathogenic g.143018525C>G g.143321432C>G - - CLCN1_000022 - - - - Germline yes - - - - DNA SEQ - - myotonia congenita, autosomal recessive (Becker disease) - - - M no Greece - - - yes - 1 Carmen Palma
+/+ 4 c.501C>G r.(?) p.(Phe167Leu) Unknown - pathogenic g.143018525C>G g.143321432C>G - - CLCN1_000022 - George 1994; Meyer-Kleine 1995 ref func:Zhang 2000a - - Germline - - - - - DNA SEQ - - myotonia congenita, autosomal recessive (Becker disease) - George 1994; Meyer-Kleine 1995 ref func:Zhang 2000a Slight shift of po (15 mv) - - - - - - - - 1 Johan den Dunnen
+/+ 4 c.501C>G r.(?) p.(Phe167Leu) Unknown - pathogenic g.143018525C>G g.143321432C>G - - CLCN1_000022 - - - - Germline - - - - - DNA SEQ - - myotonia 57416.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
+/+ 4 c.501C>G r.(?) p.(Phe167Leu) Unknown - pathogenic g.143018525C>G g.143321432C>G - - CLCN1_000022 - - - - Germline - - - - - DNA SEQ - - myotonia 62887.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
+/+ 4 c.501C>G r.(?) p.(Phe167Leu) Unknown - pathogenic g.143018525C>G g.143321432C>G - - CLCN1_000022 - - - - Germline - - - - - DNA SEQ - - myotonia 63605.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
+/+ 4 c.501C>G r.(?) p.(Phe167Leu) Unknown - pathogenic g.143018525C>G g.143321432C>G - - CLCN1_000022 - - - - Germline - - - - - DNA SEQ - - myotonia 64992.1 Leiden, unpublished - F - Netherlands - - - - - 1 Johan den Dunnen
+/+ 4 c.501C>G r.(?) p.(Phe167Leu) Unknown - pathogenic g.143018525C>G g.143321432C>G - - CLCN1_000022 - - - - Germline - - - - - DNA SEQ - - myotonia 65940.1 Leiden, unpublished - M - Netherlands - - - - - 2 Johan den Dunnen
+/+ 4 c.501C>G r.(?) p.(Phe167Leu) Unknown - pathogenic g.143018525C>G g.143321432C>G - - CLCN1_000022 - - - - Germline - - - - - DNA SEQ - - ? 67014.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
+/+ 4 c.501C>G r.(?) p.(Phe167Leu) Unknown - pathogenic g.143018525C>G g.143321432C>G - - CLCN1_000022 - - - - Germline - - - - - DNA SEQ - - ? 68796.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
+/+ 4 c.501C>G r.(?) p.(Phe167Leu) Unknown - pathogenic g.143018525C>G g.143321432C>G - - CLCN1_000022 - - - - Germline - - - - - DNA SEQ - - ? 74443.1 Leiden, unpublished - - - Netherlands - - - - - 1 Johan den Dunnen
+/+ 4 c.501C>G r.(?) p.(Phe167Leu) Unknown - pathogenic g.143018525C>G g.143321432C>G - - CLCN1_000022 - - - - Germline - - - - - DNA SEQ - - myotonia 52549.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
+/+ 4 c.501C>G r.(?) p.(Phe167Leu) Both (homozygous) - pathogenic g.143018525C>G g.143321432C>G - - CLCN1_000022 - - - - Germline - - - - - DNA SEQ - - myotonia 75982.1 Leiden, unpublished - M - Netherlands - - - - - 1 Johan den Dunnen
+/? 4 c.501C>G r.(?) p.(Phe167Leu) Unknown - pathogenic g.143018525C>G g.143321432C>G - - CLCN1_000022 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Birgit Neitzel
+/? 4 c.501C>G r.(?) p.(Phe167Leu) Unknown - pathogenic g.143018525C>G g.143321432C>G - - CLCN1_000022 - - - - Germline - - - - - DNA SEQ - - ? - - no clinical information available, sample from collaborating lab - - Germany - - - - - 1 Birgit Neitzel
+/? 4 c.501C>G r.(?) p.(Phe167Leu) Unknown - pathogenic g.143018525C>G g.143321432C>G - - CLCN1_000022 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Birgit Neitzel
+/? 4 c.501C>G r.(?) p.(Phe167Leu) Unknown - pathogenic g.143018525C>G g.143321432C>G - - CLCN1_000022 - - - - Germline - - - - - DNA SEQ - - ? - - no clinical information available, sample from collaborating lab - - Germany - - - - - 1 Birgit Neitzel
+/? 4 c.501C>G r.(?) p.(Phe167Leu) Unknown - pathogenic g.143018525C>G g.143321432C>G - - CLCN1_000022 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Birgit Neitzel
+?/+ 4 c.501C>G r.(?) p.(Phe167Leu) Unknown - likely pathogenic g.143018525C>G g.143321432C>G - - CLCN1_000022 - - - - Germline - - - - - DNA SEQ - - myotonia congenita, autosomal recessive (Becker disease) - - - M - Ethiopia - - - - - 1 Raffaella Brugnoni
+/+ 4 c.501C>G r.(?) p.(Phe167Leu) Unknown - pathogenic g.143018525C>G g.143321432C>G - - CLCN1_000022 - - - - Germline - - - - - DNA SEQ - - myotonia congenita, autosomal recessive (Becker disease) - - - M - Italy - - - - - 1 Raffaella Brugnoni
+/+ 4 c.501C>G r.(?) p.(Phe167Leu) Unknown - pathogenic g.143018525C>G g.143321432C>G - - CLCN1_000022 - - - - Germline - - - - - DNA SEQ - - myotonia congenita, autosomal recessive (Becker disease) - - - F - Italy - - - - - 1 Raffaella Brugnoni
+/+ 4 c.501C>G r.(?) p.(Phe167Leu) Unknown - pathogenic g.143018525C>G g.143321432C>G - - CLCN1_000022 - - - - Germline - - - - - DNA SEQ - - myotonia congenita, autosomal recessive (Becker disease) - - - M - Italy - - - - - 1 Raffaella Brugnoni
+/. 4 c.501C>G r.(?) p.(Phe167Leu) Parent #1 - pathogenic g.143018525C>G g.143321432C>G - - CLCN1_000022 - Ginjaar, unpublished - - Germline - - - - - DNA SEQ - - myotonia 81092.1 Ginjaar, unpublished - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 4 c.501C>G r.(?) p.(Phe167Leu) Parent #2 - pathogenic g.143018525C>G g.143321432C>G - - CLCN1_000022 - Ginjaar, unpublished - - Germline - - - - - DNA SEQ - - myotonia 65940.1 Ginjaar, unpublished - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 4 c.501C>G r.(?) p.(Phe167Leu) Parent #2 - pathogenic g.143018525C>G g.143321432C>G - - CLCN1_000022 - Ginjaar, unpublished - - Germline - - - - - DNA SEQ - - myotonia 65940.2 Ginjaar, unpublished - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 4 c.501C>G r.(?) p.(Phe167Leu) Parent #2 - pathogenic g.143018525C>G g.143321432C>G - - CLCN1_000022 - Ginjaar, unpublished - - Germline - - - - - DNA SEQ - - myotonia 81553.1 Ginjaar, unpublished - - - Belgium - - - - - 1 Ieke Ginjaar
?/. - c.501C>G r.(?) p.(Phe167Leu) Maternal (confirmed) - VUS g.143018525C>G g.143321432C>G - - CLCN1_000022 - PubMed: Papuc 2019 - rs149729531 Germline - - - - - DNA SEQ-NG-I blood WES EE 69733 - - M no Korea from Kosovo - - - - 1 Anaïs Begemann
?/. - c.501C>G r.(?) p.Phe167Leu Unknown ACMG VUS g.143018525C>G g.143321432C>G - - CLCN1_000022 George (1994) Hum Mol Genet 3: 2071 Cardani (2012) J Neurol 259: 2090 found with DM2 mutation in patient. Desaphy (2013) Exp Neurol 248: 530 Functional characterisation Chloride current as wild-type. Desaphy (2012) Neuromuscul Disord 22: 898 Poster Lucchiari (2013) J Physiol Pharmacol 64: 669 Functional characterisation Zhang (2000) Neurology 54: 937 Functional characterisation Modoni 2011 - - rs149729531 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
?/. - c.501C>G r.(?) p.Phe167Leu Unknown ACMG VUS g.143018525C>G g.143321432C>G - - CLCN1_000022 ACMG grading: PP5,BP4,BS1; George (1994) Hum Mol Genet 3: 2071 Cardani (2012) J Neurol 259: 2090;Desaphy (2013) Exp Neurol 248: 530; Desaphy (2012) Neuromuscul Disord 22: 898 Poster Lucchiari (2013) J Physiol Pharmacol 64: 669; Zhang (2000) Neurology 54: 937; Modoni 2011 - - rs149729531 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
+/. - c.501C>G r.(?) p.(Phe167Leu) Paternal (confirmed) - pathogenic g.143018525C>G g.143321432C>G - - CLCN1_000022 - PubMed: Maggi 2017 - - Germline - - - - - DNA SEQ - - myotonia congenita, atypical, acetazolamide-responsive FamPat PubMed: Maggi 2017 2-generation family, affected female F no Italy - - - - - 2 Raffaella Brugnoni
+/. - c.501C>G r.(?) p.(Phe167Leu) Unknown - pathogenic g.143018525C>G g.143321432C>G - - CLCN1_000022 - PubMed: Maggi 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? FamFather PubMed: Maggi 2017 father of patient M - Italy - - - - - 1 Johan den Dunnen
+?/. - c.501C>G r.(?) p.(Phe167Leu) Parent #1 - VUS g.143018525C>G g.143321432C>G - - CLCN1_000022 - - - rs149729531 Germline yes - - - - DNA SEQ-NG - - myotonia congenita, autosomal dominant (Thomsen disease) - - 2 compound heterozygous affected sisters F - Greece - - - - - 2 Helen Latsoudis
+/. - c.501C>G r.(?) p.(Phe167Leu) Parent #1 - pathogenic g.143018525C>G g.143321432C>G C501G - CLCN1_000022 - PubMed: Brugnoni 2022, Journal: Brugnoni 2022 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG - 56-gene panel myotonia Pat17 PubMed: Brugnoni 2022, Journal: Brugnoni 2022 analysis 109 patients M - Italy - - - - - 1 Johan den Dunnen
+/. - c.501C>G r.(?) p.(Phe167Leu) Parent #1 - pathogenic g.143018525C>G g.143321432C>G C501G - CLCN1_000022 - PubMed: Brugnoni 2022, Journal: Brugnoni 2022 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG - 56-gene panel myotonia Pat18 PubMed: Brugnoni 2022, Journal: Brugnoni 2022 analysis 109 patients M - Italy - - - - - 1 Johan den Dunnen
+/. - c.501C>G r.(?) p.(Phe167Leu) Maternal (confirmed) - pathogenic g.143018525C>G g.143321432C>G C501G - CLCN1_000022 - PubMed: Brugnoni 2022, Journal: Brugnoni 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - 56-gene panel myotonia Pat23 PubMed: Brugnoni 2022, Journal: Brugnoni 2022 analysis 109 patients F - Italy - - - - - 1 Johan den Dunnen
+/. - c.501C>G r.(?) p.(Phe167Leu) Unknown - pathogenic g.143018525C>G g.143321432C>G C501G - CLCN1_000022 - PubMed: Brugnoni 2022, Journal: Brugnoni 2022 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG - 56-gene panel myotonia Pat24 PubMed: Brugnoni 2022, Journal: Brugnoni 2022 analysis 109 patients M - Italy - - - - - 1 Johan den Dunnen
+/. - c.501C>G r.(?) p.(Phe167Leu) Parent #1 - pathogenic (recessive) g.143018525C>G g.143321432C>G F167L - CLCN1_000022 - PubMed: Modoni 2011, Journal: Modoni 2011 - - Germline - - - - - DNA SEQ - - myotonia B0-1 PubMed: Modoni 2011, Journal: Modoni 2011 - - - Italy - - - - - 1 Johan den Dunnen
+/. - c.501C>G r.(?) p.(Phe167Leu) Parent #1 - pathogenic (recessive) g.143018525C>G g.143321432C>G F167L - CLCN1_000022 - PubMed: Modoni 2011, Journal: Modoni 2011 - - Germline - - - - - DNA SEQ - - myotonia B0-2 PubMed: Modoni 2011, Journal: Modoni 2011 - - - Italy - - - - - 1 Johan den Dunnen
+/. - c.501C>G r.(?) p.(Phe167Leu) Parent #1 - pathogenic (recessive) g.143018525C>G g.143321432C>G F167L - CLCN1_000022 no variant 2nd chromosome PubMed: Modoni 2011, Journal: Modoni 2011 - - Germline - - - - - DNA SEQ - - myotonia C0-1 PubMed: Modoni 2011, Journal: Modoni 2011 - - - Italy - - - - - 1 Johan den Dunnen
+/. - c.501C>G r.(?) p.(Phe167Leu) Parent #1 - pathogenic (recessive) g.143018525C>G g.143321432C>G F167L - CLCN1_000022 - PubMed: Modoni 2011, Journal: Modoni 2011 - - Germline - - - - - DNA SEQ - - myotonia E0-1 PubMed: Modoni 2011, Journal: Modoni 2011 - - - Italy - - - - - 1 Johan den Dunnen
+/. - c.501C>G r.(?) p.(Phe167Leu) Parent #1 - pathogenic (recessive) g.143018525C>G g.143321432C>G F167L - CLCN1_000022 - PubMed: Modoni 2011, Journal: Modoni 2011 - - Germline - - - - - DNA SEQ - - myotonia G0-1 PubMed: Modoni 2011, Journal: Modoni 2011 - - - Italy - - - - - 1 Johan den Dunnen
+/. - c.501C>G r.(?) p.(Phe167Leu) Parent #1 - pathogenic (recessive) g.143018525C>G g.143321432C>G F167L - CLCN1_000022 - PubMed: Modoni 2011, Journal: Modoni 2011 - - Germline - - - - - DNA SEQ - - myotonia G0-2 PubMed: Modoni 2011, Journal: Modoni 2011 - - - Italy - - - - - 1 Johan den Dunnen
+/. - c.501C>G r.(?) p.(Phe167Leu) Both (homozygous) - pathogenic (recessive) g.143018525C>G g.143321432C>G F167L - CLCN1_000022 - PubMed: Modoni 2011, Journal: Modoni 2011 - - Germline - - - - - DNA SEQ - - myotonia Z0-1 PubMed: Modoni 2011, Journal: Modoni 2011 - - - Italy - - - - - 1 Johan den Dunnen
+/. - c.501C>G r.(?) p.(Phe167Leu) Parent #1 - pathogenic (recessive) g.143018525C>G g.143321432C>G F167L - CLCN1_000022 - PubMed: Modoni 2011, Journal: Modoni 2011 - - Germline - - - - - DNA SEQ - - myotonia F0-1 PubMed: Modoni 2011, Journal: Modoni 2011 - - - Italy - - - - - 1 Johan den Dunnen
+/. - c.501C>G r.(?) p.(Phe167Leu) Parent #1 - pathogenic (recessive) g.143018525C>G g.143321432C>G F167L - CLCN1_000022 - PubMed: Modoni 2011, Journal: Modoni 2011 - - Germline - - - - - DNA SEQ - - myotonia D0-1 PubMed: Modoni 2011, Journal: Modoni 2011 - - - Italy - - - - - 1 Johan den Dunnen
+/. - c.501C>G r.(?) p.(Phe167Leu) Parent #1 - pathogenic (recessive) g.143018525C>G g.143321432C>G F167L - CLCN1_000022 - PubMed: Modoni 2011, Journal: Modoni 2011 - - Germline - - - - - DNA SEQ - - myotonia A0-1 PubMed: Modoni 2011, Journal: Modoni 2011 - - - Italy - - - - - 1 Johan den Dunnen
+/. - c.501C>G r.(?) p.(Phe167Leu) Parent #1 - pathogenic (recessive) g.143018525C>G g.143321432C>G F167L - CLCN1_000022 - PubMed: Modoni 2011, Journal: Modoni 2011 - - Germline - - - - - DNA SEQ - - myotonia A0-2 PubMed: Modoni 2011, Journal: Modoni 2011 - - - Italy - - - - - 1 Johan den Dunnen
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