Unique variants in the KCNE1L gene

NOTE: gene symbol was recently changed from KCNE1L to KCNE5
Information The variants shown are described using the NM_012282.2 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 1 - c.32C>T r.(?) p.(Thr11Ile) - VUS g.108868218G>A g.109624989G>A KCNE5(NM_012282.3):c.32C>T (p.T11I) - KCNE1L_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 2 - c.55G>T r.(?) p.(Glu19Ter) - VUS g.108868195C>A g.109624966C>A KCNE5(NM_012282.3):c.55G>T (p.E19*), KCNE5(NM_012282.4):c.55G>T (p.E19*) - KCNE1L_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 - c.79A>G r.(?) p.(Ser27Gly) - VUS g.108868171T>C g.109624942T>C KCNE5(NM_012282.3):c.79A>G (p.S27G) - KCNE1L_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.87G>T r.(?) p.(Leu29Phe) - benign g.108868163C>A g.109624934C>A - - KCNE1L_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., ?/. 2 - c.97C>T r.(?) p.(Pro33Ser) - benign, VUS g.108868153G>A g.109624924G>A KCNE5(NM_012282.3):c.97C>T (p.P33S) - KCNE1L_000007 recurrent, found 17 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 17/208 cases - - - Lucy Raymond, VKGL-NL_AMC
?/. 1 - c.109A>G r.(?) p.(Met37Val) - VUS g.108868141T>C g.109624912T>C KCNE5(NM_012282.3):c.109A>G (p.M37V) - KCNE1L_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 1 c.184T>A r.(?) p.(Tyr62Asn) - VUS g.108868066A>T g.109624837A>T - - KCNE1L_000003 - PubMed: Neubauer 2018, Journal: Neubauer 2018 - - Unknown - - - - - Cordula Haas
-/. 1 - c.241T>C r.(?) p.(Tyr81His) - benign g.108868009A>G g.109624780A>G - - KCNE1L_000014 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.013 - - - Global Variome, with Curator vacancy
?/. 1 - c.294del r.(?) p.(Cys98TrpfsTer12) - VUS g.108867956del g.109624727del KCNE5(NM_012282.3):c.294delC (p.C98Wfs*12) - KCNE1L_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.346G>A r.(?) p.(Ala116Thr) - likely benign g.108867904C>T g.109624675C>T KCNE5(NM_012282.3):c.346G>A (p.A116T) - KCNE1L_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/., ?/. 2 - c.358C>T r.(?) p.(Gln120Ter) - likely pathogenic, VUS g.108867892G>A g.109624663G>A KCNE5(NM_012282.3):c.358C>T (p.Q120*) - KCNE1L_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 2 1 c.*644C>T r.(=) p.(=) - VUS g.108867177G>A g.109623948G>A - - KCNE1L_000002 - - - - Germline - - - - - Yu Sun
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