Full data view for gene KCNJ5

Information The variants shown are described using the NM_000890.3 transcript reference sequence.

69 entries on 1 page. Showing entries 1 - 69.
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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.-295_-290del r.(?) p.(=) Unknown - benign g.128761332_128761337del g.128891437_128891442del - - C11orf45_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-289G>C r.(?) p.(=) Unknown - benign g.128761338G>C g.128891443G>C - - C11orf45_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-202_-197del r.(?) p.(=) Unknown - likely benign g.128761425_128761430del g.128891530_128891535del - - C11orf45_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4dup r.(?) p.(Ala2GlyfsTer5) Unknown - VUS g.128781172dup g.128911277dup KCNJ5(NM_000890.5):c.4dupG (p.A2Gfs*5) - C11orf45_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.110C>T r.(?) p.(Thr37Ile) Unknown - VUS g.128781278C>T - - - C11orf45_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.121C>T r.(?) p.(Arg41Cys) Unknown - likely benign g.128781289C>T g.128911394C>T KCNJ5(NM_000890.3):c.121C>T (p.R41C), KCNJ5(NM_000890.5):c.121C>T (p.R41C) - C11orf45_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.121C>T r.(?) p.(Arg41Cys) Unknown - likely benign g.128781289C>T g.128911394C>T KCNJ5(NM_000890.3):c.121C>T (p.R41C), KCNJ5(NM_000890.5):c.121C>T (p.R41C) - C11orf45_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.121C>T r.(?) p.(Arg41Cys) Parent #1 - likely benign g.128781289C>T g.128911394C>T - - C11orf45_000005 12 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs115012103 Germline - 12/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 12 Mohammed Faruq
-?/. - c.122G>A r.(?) p.(Arg41His) Unknown - likely benign g.128781290G>A g.128911395G>A - - C11orf45_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.133G>A r.(?) p.(Glu45Lys) Unknown - likely benign g.128781301G>A g.128911406G>A KCNJ5(NM_000890.3):c.133G>A (p.E45K) - C11orf45_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.144G>A r.(?) p.(Lys48=) Unknown - likely benign g.128781312G>A g.128911417G>A - - KCNJ5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.148C>T r.(?) p.(Arg50Cys) Unknown - likely pathogenic g.128781316C>T g.128911421C>T - - KCNJ5_000006 variant assumed de novo PubMed: Hertz 2015, Journal: Hertz 2015 - - De novo ? - - - - DNA SEQ-NG-I Blood - SIDS - PubMed: Hertz 2015, Journal: Hertz 2015 - F ? Denmark Denmark 00y01m - - - 1 Christin Hertz
-/. - c.171T>C r.(?) p.(Ser57=) Unknown - benign g.128781339T>C g.128911444T>C KCNJ5(NM_000890.5):c.171T>C (p.S57=) - KCNJ5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.171T>C r.(?) p.(Ser57=) Unknown - benign g.128781339T>C g.128911444T>C KCNJ5(NM_000890.5):c.171T>C (p.S57=) - KCNJ5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.171T>C r.(?) p.(Ser57=) Unknown - benign g.128781339T>C g.128911444T>C KCNJ5(NM_000890.5):c.171T>C (p.S57=) - KCNJ5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.172G>A r.(?) p.(Gly58Ser) Unknown - likely benign g.128781340G>A - KCNJ5(NM_000890.5):c.172G>A (p.G58S) - C11orf45_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.192C>T r.(?) p.(His64=) Unknown - benign g.128781360C>T g.128911465C>T KCNJ5(NM_000890.3):c.192C>T (p.H64=), KCNJ5(NM_000890.5):c.192C>T (p.H64=) - C11orf45_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.192C>T r.(?) p.(His64=) Unknown - benign g.128781360C>T - KCNJ5(NM_000890.3):c.192C>T (p.H64=), KCNJ5(NM_000890.5):c.192C>T (p.H64=) - C11orf45_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.235A>G r.(?) p.(Thr79Ala) Unknown - likely pathogenic g.128781403A>G g.128911508A>G - - C11orf45_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.273C>T r.(?) p.(Leu91=) Unknown - benign g.128781441C>T g.128911546C>T KCNJ5(NM_000890.5):c.273C>T (p.L91=) - KCNJ5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.274G>A r.(?) p.(Val92Ile) Unknown - VUS g.128781442G>A g.128911547G>A KCNJ5(NM_000890.5):c.274G>A (p.V92I) - KCNJ5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.347G>A r.(?) p.(Gly116Asp) Unknown - VUS g.128781515G>A - KCNJ5(NM_000890.3):c.347G>A (p.G116D) - C11orf45_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.347G>A r.(?) p.(Gly116Asp) Unknown - VUS g.128781515G>A - KCNJ5(NM_000890.3):c.347G>A (p.G116D) - C11orf45_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.409G>A r.(?) p.(Val137Met) Unknown - likely benign g.128781577G>A g.128911682G>A KCNJ5(NM_000890.3):c.409G>A (p.(Val137Met)) - C11orf45_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.452G>A r.(?) p.(Gly151Glu) Unknown - pathogenic g.128781620G>A g.128911725G>A - - KCNJ5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.464G>A r.(?) p.(Arg155Gln) Unknown - VUS g.128781632G>A g.128911737G>A KCNJ5(NM_000890.3):c.464G>A (p.R155Q) - KCNJ5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.503T>G r.(?) p.(Leu168Arg) Unknown - pathogenic g.128781671T>G g.128911776T>G - - KCNJ5_000026 - PubMed: Zhang 2020 - - Somatic - - - - - DNA SEQ-NG-I - - ? patient PubMed: Zhang 2020 - M - China - - - - - 1 Dai Weiqian
?/. - c.555C>A r.(?) p.(Cys185*) Unknown - VUS g.128781723C>A - KCNJ5(NM_000890.3):c.555C>A (p.C185*) - C11orf45_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.616G>A r.(?) p.(Ala206Thr) Unknown - VUS g.128781784G>A g.128911889G>A - - C11orf45_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.631C>T r.(?) p.(Arg211Trp) Parent #1 - likely pathogenic g.128781799C>T g.128911904C>T - - KCNJ5_000007 - PubMed: Hertz 2015, Journal: Hertz 2015 - - Germline ? - - - - DNA SEQ-NG-I Blood - SIDS - PubMed: Hertz 2015, Journal: Hertz 2015 - F ? Denmark Denmark 00y01m - - - 1 Christin Hertz
+?/. - c.631C>T r.(?) p.(Arg211Trp) Unknown - likely pathogenic g.128781799C>T g.128911904C>T KCNJ5(NM_000890.3):c.631C>T (p.R211W) - KCNJ5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.666C>T r.(?) p.(Gly222=) Unknown - likely benign g.128781834C>T g.128911939C>T - - KCNJ5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.739G>A r.(?) p.(Gly247Arg) Unknown - VUS g.128781907G>A g.128912012G>A KCNJ5(NM_001354169.2):c.739G>A (p.G247R) - KCNJ5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.775G>A r.(?) p.(Val259Met) Parent #1 - likely pathogenic g.128781943G>A g.128912048G>A - - KCNJ5_000008 - PubMed: Sertedaki 2016 - - Germline - - - - - DNA SEQ - - ? Pat1 PubMed: Sertedaki 2016 - M - Greece - - - - - 1 Amalia Sertedaki
?/. 2 c.788C>T r.(?) p.(Thr263Met) Unknown - VUS g.128781956C>T g.128912061C>T - - KCNJ5_000025 - PubMed: Perez-Sanchez 2018 - - Germline - - - - - DNA SEQ - - Healthy/Control 29984652-FamPat2 PubMed: Perez-Sanchez 2018 grandfather M - Spain - - - - - 1 Johan den Dunnen
?/. 2 c.788C>T r.(?) p.(Thr263Met) Maternal (confirmed) - VUS g.128781956C>T g.128912061C>T - - KCNJ5_000025 - PubMed: Perez-Sanchez 2018 - - Germline - - - - - DNA SEQ - - BMD 29984652-FamPat PubMed: Perez-Sanchez 2018 3-generation family M - Spain - - - - - 2 Johan den Dunnen
?/. - c.788C>T r.(?) p.(Thr263Met) Maternal (confirmed) - VUS g.128781956C>T g.128912061C>T Thr263Met - KCNJ5_000025 - PubMed: Perez-Sanchez 2018 - - Germline - - - - - DNA SEQ - gene panel ? patient PubMed: Perez-Sanchez 2018 3-generation family, asymptomatic carrier mother/maternal grandfather M - Spain - - - - - 3 Johan den Dunnen
?/. - c.793G>A r.(?) p.(Asp265Asn) Unknown - VUS g.128781961G>A g.128912066G>A KCNJ5(NM_000890.5):c.793G>A (p.D265N) - C11orf45_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.810T>C r.(?) p.(Leu270=) Unknown - benign g.128781978T>C g.128912083T>C - - C11orf45_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.810T>G r.(?) p.(Leu270=) Unknown - benign g.128781978T>G g.128912083T>G KCNJ5(NM_000890.3):c.810T>G (p.L270=), KCNJ5(NM_000890.5):c.810T>G (p.L270=) - KCNJ5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.810T>G r.(?) p.(Leu270=) Unknown - benign g.128781978T>G g.128912083T>G KCNJ5(NM_000890.3):c.810T>G (p.L270=), KCNJ5(NM_000890.5):c.810T>G (p.L270=) - KCNJ5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.810T>G r.(?) p.(Leu270=) Unknown - benign g.128781978T>G g.128912083T>G KCNJ5(NM_000890.3):c.810T>G (p.L270=), KCNJ5(NM_000890.5):c.810T>G (p.L270=) - KCNJ5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.810T>G r.(?) p.(Leu270=) Unknown - benign g.128781978T>G g.128912083T>G KCNJ5(NM_000890.3):c.810T>G (p.L270=), KCNJ5(NM_000890.5):c.810T>G (p.L270=) - KCNJ5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.834T>C r.(?) p.(His278=) Unknown - benign g.128782002T>C g.128912107T>C KCNJ5(NM_000890.3):c.834T>C (p.H278=), KCNJ5(NM_000890.5):c.834T>C (p.H278=) - KCNJ5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.834T>C r.(?) p.(His278=) Unknown - benign g.128782002T>C g.128912107T>C KCNJ5(NM_000890.3):c.834T>C (p.H278=), KCNJ5(NM_000890.5):c.834T>C (p.H278=) - KCNJ5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.834T>C r.(?) p.(His278=) Unknown - benign g.128782002T>C g.128912107T>C KCNJ5(NM_000890.3):c.834T>C (p.H278=), KCNJ5(NM_000890.5):c.834T>C (p.H278=) - KCNJ5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.834T>C r.(?) p.(His278=) Unknown - benign g.128782002T>C g.128912107T>C KCNJ5(NM_000890.3):c.834T>C (p.H278=), KCNJ5(NM_000890.5):c.834T>C (p.H278=) - KCNJ5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.844C>A r.(?) p.(Gln282Lys) Unknown - likely benign g.128782012C>A g.128912117C>A - - C11orf45_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.844C>G r.(?) p.(Gln282Glu) Unknown - benign g.128782012C>G g.128912117C>G KCNJ5(NM_000890.3):c.844C>G (p.Q282E), KCNJ5(NM_000890.5):c.844C>G (p.Q282E) - KCNJ5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.844C>G r.(?) p.(Gln282Glu) Unknown - benign g.128782012C>G g.128912117C>G KCNJ5(NM_000890.3):c.844C>G (p.Q282E), KCNJ5(NM_000890.5):c.844C>G (p.Q282E) - KCNJ5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.844C>G r.(?) p.(Gln282Glu) Unknown - benign g.128782012C>G g.128912117C>G KCNJ5(NM_000890.3):c.844C>G (p.Q282E), KCNJ5(NM_000890.5):c.844C>G (p.Q282E) - KCNJ5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.855T>G r.(?) p.(Pro285=) Unknown - likely benign g.128782023T>G g.128912128T>G - - C11orf45_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.937+7C>T r.(=) p.(=) Unknown - benign g.128782112C>T g.128912217C>T KCNJ5(NM_000890.5):c.937+7C>T - KCNJ5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.937+7C>T r.(=) p.(=) Unknown - benign g.128782112C>T g.128912217C>T KCNJ5(NM_000890.5):c.937+7C>T - KCNJ5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.937+7C>T r.(=) p.(=) Parent #1 - benign g.128782112C>T g.128912217C>T - - KCNJ5_000019 51 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs45516097 Germline - 51/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 51 Mohammed Faruq
-/. - c.938-20T>C r.(=) p.(=) Unknown - benign g.128786284T>C g.128916389T>C KCNJ5(NM_000890.5):c.938-20T>C - C11orf45_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.938-11C>T r.(=) p.(=) Unknown - benign g.128786293C>T g.128916398C>T KCNJ5(NM_000890.3):c.938-11C>T, KCNJ5(NM_001354169.2):c.938-11C>T - C11orf45_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.938-11C>T r.(=) p.(=) Unknown - likely benign g.128786293C>T - KCNJ5(NM_000890.3):c.938-11C>T, KCNJ5(NM_001354169.2):c.938-11C>T - C11orf45_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.938-10G>A r.(=) p.(=) Unknown - benign g.128786294G>A g.128916399G>A KCNJ5(NM_000890.5):c.938-10G>A - KCNJ5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.938-10G>A r.(=) p.(=) Unknown - benign g.128786294G>A g.128916399G>A KCNJ5(NM_000890.5):c.938-10G>A - KCNJ5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.938-10G>A r.(=) p.(=) Unknown - benign g.128786294G>A g.128916399G>A KCNJ5(NM_000890.5):c.938-10G>A - KCNJ5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.957G>A r.(?) p.(Arg319=) Unknown - benign g.128786323G>A - KCNJ5(NM_000890.3):c.957G>A (p.R319=), KCNJ5(NM_001354169.2):c.957G>A (p.R319=) - C11orf45_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.957G>A r.(?) p.(Arg319=) Unknown - benign g.128786323G>A - KCNJ5(NM_000890.3):c.957G>A (p.R319=), KCNJ5(NM_001354169.2):c.957G>A (p.R319=) - C11orf45_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.1042T>A r.(?) p.(Tyr348Asn) Parent #1 - likely pathogenic g.128786408T>A g.128916513T>A - - KCNJ5_000009 - PubMed: Sertedaki 2016 - - Germline - - - - - DNA SEQ - - ? Pat2 PubMed: Sertedaki 2016 - F - Greece - - - - - 1 Amalia Sertedaki
?/. - c.1074C>A r.(?) p.(Asn358Lys) Unknown - VUS g.128786440C>A - - - KCNJ5_000027 - - - rs2136003967 Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1151C>A r.(?) p.(Pro384Gln) Unknown - VUS g.128786517C>A g.128916622C>A KCNJ5(NM_000890.5):c.1151C>A (p.P384Q) - KCNJ5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.1159G>C r.(?) p.(Gly387Arg) Maternal (confirmed) - pathogenic g.128786525G>C g.128916630G>C 1473G>C (Gly387Arg) - KCNJ5_000005 mapped by linkage analysis PubMed: Yang 2010 - - Germline yes - - - - DNA SEQ - - LQT13 - PubMed: Yang 2010 4-generation family, 10 affecteds (7F, 3M) - - China - - - - - 10 Frans Cremers
+?/. - c.1159G>C r.(?) p.(Gly387Arg) Maternal (confirmed) ACMG likely pathogenic (!) g.128786525G>C - - - KCNJ5_000005 likely benign based on ACMG guidelines, but functional studies showed near complete loss of channel activity; variant segregated from affected mother so we concluded the variant is likely to be causative for their periodic paralysis phenotype PubMed: Hiraide 2021 - - Germline yes - - - - DNA SEQ-NG-I - - ? - PubMed: Hiraide 2021 - M no Japan - - - - - 1 Mitsuko Nakashima
-/. - c.1237A>C r.(?) p.(Arg413=) Unknown - benign g.128786603A>C - KCNJ5(NM_001354169.2):c.1237A>C (p.R413=) - C11orf45_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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