Full data view for gene KCNJ2

Information The variants shown are described using the NM_000891.2 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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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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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/? 2 c.652C>T r.(?) p.(Arg218Trp) Parent #1 - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Lange 2003 PubMed: Yoon 2006 - - Germline - - - - - ? ? - - Andersen syndrome - PubMed: Lange 2003 PubMed: Yoon 2006 cardiac abnormalities / periodic paralysis / dysmorphic features F ? United States white >12y - - - 2 Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) Parent #1 - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 cytoplasmic, CD loop,PIP2 binding, interaction with Thr309 PubMed: Yoon 2006 PubMed: Plaster 2001 - - De novo - 4/16 ATS families - - - DNA PCRms - - Andersen syndrome - PubMed: Yoon 2006 PubMed: Plaster 2001 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 2681 F ? United States white >29y - - - 1 Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) Parent #1 - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 cytoplasmic, CD loop,interaction with Thr309 PubMed: Plaster 2001 - - De novo - 4/16 ATS families - - - DNA PCRms - - Andersen syndrome - PubMed: Plaster 2001 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred6515 M ? United States - >17y - - - 1 Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) Parent #1 - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 cytoplasmic, CD loop,PIP2 binding, interaction with Thr309 PubMed: Plaster 2001 - - Unknown - 4/16 ATS families - - - DNA PCRms - - Andersen syndrome - PubMed: Plaster 2001 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 2401 F ? United States - >35y - - - 1 Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) Parent #1 - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 Kindred2679, cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Tristani 2002 - - De novo - 4/16 ATS families - - - DNA SSCA, PCRms - - Andersen syndrome - PubMed: Tristani 2002 cardiac abnormalities / Kindred2679 M ? United States - >24y - - - 1 Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) Parent #1 - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 Kindred7480, cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Tristani 2002 - - Unknown - - - - - DNA SSCA, PCRms - - Andersen syndrome - PubMed: Tristani 2002 cardiac abnormalities / Kindred7480 M ? United States - >10y - - - 1 Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) Parent #1 - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Donaldson 2003 - - Germline - 1/17 ATS probands - - - DNA SEQ - - Andersen syndrome - PubMed: Donaldson 2003 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred7527, father nonpenetrace F ? United States - - - - - 2 Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) Parent #1 - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Davies 2005 - - Germline - 2/>140 periodic paralysis - - - DNA SEQ - - Andersen syndrome - PubMed: Davies 2005 cardiac abnormalities / periodic paralysis / dysmorphic features F ? United Kingdom (Great Britain) - >15y - - - 4 Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) Parent #1 - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Davies 2005 - - Unknown - 2/>140 periodic paralysis - - - DNA SEQ - - Andersen syndrome - PubMed: Davies 2005 periodic paralysis / dysmorphic features M ? United Kingdom (Great Britain) - >24y - - - 3 Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) Parent #1 - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Haruna 2007 - - Germline - - - - - DNA SSCA, DHPLC, SEQ - - Andersen syndrome - PubMed: Haruna 2007 cardiac abnormalities / periodic paralysis / Kindred 180 F ? Japan Japanese >6y - - - 3 Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) Parent #1 - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Haruna 2007 - - Germline - - - - - DNA SSCA, DHPLC, SEQ - - Andersen syndrome - PubMed: Haruna 2007 cardiac abnormalities / dysmorphic features / Kindred 240 F ? Japan Japanese >11y - - - 3 Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) Parent #1 - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Haruna 2007 - - De novo - - - - - DNA SSCA, DHPLC, SEQ - - Andersen syndrome - PubMed: Haruna 2007 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 324 M ? Japan Japanese >6y - - - 1 Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) Parent #1 - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Weir 2011 - - Germline - - - - - DNA ? - - Andersen syndrome - PubMed: Weir 2011 periodic paralysis / dysmorphic features F ? United States Scottish >34y - - - 1 Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) Parent #1 - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Schoonderwoerd 2006 - - Germline - - - - - ? SEQ - - Andersen syndrome - PubMed: Schoonderwoerd 2006 cardiac abnormalities / dysmorphic features F ? Netherlands - >18y - - - 3 Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) Parent #1 - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Subbiah 2008 - - Unknown - - - - - ? ? - - Andersen syndrome - PubMed: Subbiah 2008 cardiac abnormalities / periodic paralysis F ? Canada - >27y - - - 1 Ikuko Takeda
+/? 2 c.652C>T r.(?) p.(Arg218Trp) Parent #1 - pathogenic g.68171832C>T g.70175691C>T - - KCNJ2_000040 cytoplasmic, CD loop, PIP2 binding, interaction with Thr309 PubMed: Tengan 2006 - - De novo - - - - - ? ? - - Andersen syndrome - PubMed: Tengan 2006 cardiac abnormalities / periodic paralysis / dysmorphic features M no Brazil - >33y - - - 2 Ikuko Takeda
+/. - c.652C>T r.(?) p.(Arg218Trp) Unknown - pathogenic g.68171832C>T g.70175691C>T KCNJ2(NM_000891.3):c.652C>T (p.R218W) - KCNJ2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.652C>T r.(?) p.(Arg218Trp) Unknown - pathogenic g.68171832C>T g.70175691C>T KCNJ2(NM_000891.3):c.652C>T (p.R218W) - KCNJ2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.652C>T r.(?) p.(Arg218Trp) Maternal (confirmed) ACMG pathogenic (dominant) g.68171832C>T g.70175691C>T - - KCNJ2_000040 ACMG PM2, PM5, PP2, PP3, PP4, PP5 PubMed: Marinakis 2021 - rs104894578 Germline - - - - - DNA SEQ, SEQ-NG - clinical exome sequencing ? 7011 PubMed: Marinakis 2021 2-generation family, patient and similarly affected mother M - Greece - - - - - 2 Jan Traeger-Synodinos
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