Unique variants in the KCNQ1OT1 gene

Information The variants shown are described using the NR_002728.2 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
Legend   How to query  

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 - n.-18208_41371del r.(?) - - pathogenic g.2679858_2739436del g.2658628_2718206del arr[hg19] 11p15.5 (2,684,979-2,737,280)x1 pat arr[hg19] 11p15.5 (2,684,979-2,737,280)x1 pat.seq 11p15.5(2,679,858-2,739,436)del KCNQ1_000755 - PubMed: Crescenzo 2013, for EUCID-SRS consortium - - Germline - - - - - Zeynep Tümer
+?/. 1 - n.134_265del r.(?) - - pathogenic (paternal) g.2720964_2721095del g.2699734_2699865del - - KCNQ1OT1_000005 father unaffected (hypomethylation maternal allele) PubMed: Eggermann 2021 - - Germline - - - - hypermethylation Johan den Dunnen
-/. 1 - n.37900G>A r.(?) - - benign g.2683329C>T g.2662099C>T KCNQ1(NM_000218.2):c.1514+18C>T - KCNQ1OT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 3 - n.37911C>A r.(?) - - benign, likely benign g.2683318G>T g.2662088G>T KCNQ1(NM_000218.2):c.1514+7G>T, KCNQ1OT1(NR_002728.3):n.37911C>A - KCNQ1_000975 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - n.37920T>G r.(?) - - likely benign g.2683309A>C - KCNQ1(NM_000218.2):c.1512A>C (p.S504=) - KCNQ1_001400 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - n.37924A>G r.(?) - - VUS g.2683305T>C g.2662075T>C KCNQ1(NM_000218.2):c.1508T>C (p.I503T) - KCNQ1_001100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 3 - n.37956T>C r.(?) - - benign, likely benign g.2683273A>G g.2662043A>G KCNQ1(NM_000218.2):c.1476A>G (p.E492=) - KCNQ1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - n.37971C>G r.(?) - - likely benign g.2683258G>C - KCNQ1(NM_000218.2):c.1461G>C (p.E487D) - KCNQ1OT1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - n.37977G>A r.(?) - - benign g.2683252C>T g.2662022C>T KCNQ1(NM_000218.2):c.1455C>T (p.F485=) - KCNQ1OT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 2 - n.37983G>T r.(?) - - VUS g.2683246C>A g.2662016C>A KCNQ1(NM_000218.2):c.1449C>A (p.N483K, p.(Asn483Lys)), KCNQ1OT1(NR_002728.3):n.37983G>T - KCNQ1OT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
-?/. 1 - n.37990_37994del r.(?) - - likely benign g.2683236_2683240del g.2662006_2662010del KCNQ1(NM_000218.2):c.1439_1443delTGAGA (p.M480Nfs*34) - KCNQ1OT1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - n.38039C>A - - - likely pathogenic g.2683190G>T g.2661960G>T - - KCNQ1_001339 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs775537394 Germline - 1/2795 individuals - - - Mohammed Faruq
-/. 3 - n.38052G>A r.(?) - - benign g.2683177C>T g.2661947C>T KCNQ1(NM_000218.2):c.1394-14C>T, KCNQ1OT1(NR_002728.3):n.38052G>A - KCNQ1_000766 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 2 - n.38053_38054del r.(?) - - benign g.2683178_2683179del g.2661948_2661949del KCNQ1(NM_000218.2):c.1394-13_1394-12delAC - KCNQ1_001096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
Legend   How to query