Full data view for gene KCNC1

Information The variants shown are described using the NM_001112741.1 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
Legend   How to query  

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.169_171del r.(?) p.(Phe57del) Unknown - VUS g.17757718_17757720del - KCNC1(NM_004976.4):c.169_171delTTC (p.F57del) - KCNC1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.300C>A r.(?) p.(Asp100Glu) Unknown - VUS g.17757849C>A g.17736302C>A KCNC1(NM_004976.4):c.300C>A (p.D100E) - KCNC1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.421G>T r.(?) p.(Asp141Tyr) Unknown - VUS g.17757970G>T g.17736423G>T KCNC1(NM_004976.4):c.421G>T (p.D141Y) - KCNC1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.594C>G r.(?) p.(Phe198Leu) Unknown - likely benign g.17793235C>G g.17771688C>G - - KCNC1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.666G>A r.(?) p.(=) Unknown - likely benign g.17793307G>A - KCNC1(NM_001112741.1):c.666G>A (p.T222=) - KCNC1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.683G>T r.(?) p.(Arg228Leu) Unknown - likely benign g.17793324G>T g.17771777G>T KCNC1(NM_001112741.2):c.683G>T (p.(Arg228Leu)), KCNC1(NM_004976.4):c.683G>T (p.R228L) - KCNC1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.683G>T r.(?) p.(Arg228Leu) Unknown - likely benign g.17793324G>T - KCNC1(NM_001112741.2):c.683G>T (p.(Arg228Leu)), KCNC1(NM_004976.4):c.683G>T (p.R228L) - KCNC1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.683G>T r.(?) p.(Arg228Leu) Unknown - likely benign g.17793324G>T - KCNC1(NM_001112741.2):c.683G>T (p.(Arg228Leu)), KCNC1(NM_004976.4):c.683G>T (p.R228L) - KCNC1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.709C>T r.(?) p.(Arg237Trp) Unknown - VUS g.17793350C>T g.17771803C>T - - KCNC1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.889G>A r.(?) p.(Gly297Ser) Unknown - likely pathogenic g.17793530G>A g.17771983G>A KCNC1(NM_001112741.2):c.889G>A (p.G297S), KCNC1(NM_004976.4):c.889G>A (p.G297S) - KCNC1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.889G>A r.(?) p.(Gly297Ser) Unknown - VUS g.17793530G>A - KCNC1(NM_001112741.2):c.889G>A (p.G297S), KCNC1(NM_004976.4):c.889G>A (p.G297S) - KCNC1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.889G>A r.(?) p.(Gly297Ser) Unknown - VUS g.17793530G>A - KCNC1(NM_001112741.2):c.889G>A (p.G297S), KCNC1(NM_004976.4):c.889G>A (p.G297S) - KCNC1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.912G>A r.(?) p.(Lys304=) Unknown - likely benign g.17793553G>A - KCNC1(NM_004976.4):c.912G>A (p.K304=) - KCNC1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.932G>A r.(?) p.(Arg311His) Unknown - VUS g.17793573G>A - KCNC1(NM_001112741.2):c.932G>A (p.R311H) - KCNC1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.934G>T r.(?) p.(Val312Phe) Unknown - VUS g.17793575G>T - KCNC1(NM_004976.4):c.934G>T (p.V312F) - KCNC1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.976C>T r.(?) p.(Arg326Cys) Unknown - VUS g.17793617C>T - KCNC1(NM_001112741.2):c.976C>T (p.R326C) - KCNC1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.1015C>T r.(0?) p.(Arg339*) Paternal (confirmed) - pathogenic g.17793656C>T g.17772109C>T - - KCNC1_000001 - - - - Germline yes - - - - DNA SEQ-NG-I blood - MRT - - - M no - North Africa - - - - 1 Thierry Bienvenu
+/. - c.1015C>T r.(?) p.(Arg339*) Paternal (confirmed) - pathogenic g.17793656C>T g.17772109C>T - - KCNC1_000001 very significant reduction (>0.50) KCNC1 transcript in fibroblasts PubMed: Poirier 2017, Journal: Poirier 2017 - - Germline yes - - - - DNA SEQ-NG blood - ID 28145425-Fam PubMed: Poirier 2017, Journal: Poirier 2017 2-generation family, 3 affecteds, father, daugther and son F;M ? France - - - - - 3 Karine Poirier
?/. - c.1066G>A r.(?) p.(Val356Met) Unknown - VUS g.17793707G>A - KCNC1(NM_004976.4):c.1066G>A (p.V356M) - KCNC1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1152dup r.(?) p.(Lys385*) Unknown - likely pathogenic g.17793793dup - KCNC1(NM_001112741.1):c.1152dupT (p.(Lys385fs)) - KCNC1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1236C>T r.(?) p.(Ser412=) Unknown - likely benign g.17793877C>T - KCNC1(NM_004976.4):c.1236C>T (p.S412=) - KCNC1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1297C>T r.(?) p.(Pro433Ser) Unknown - VUS g.17793938C>T - - - KCNC1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1409A>G r.(?) p.(Asn470Ser) Unknown - likely benign g.17794050A>G - KCNC1(NM_001112741.1):c.1409A>G (p.(Asn470Ser)) - KCNC1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1451A>G r.(?) p.(Gln484Arg) Unknown - VUS g.17794092A>G g.17772545A>G - - KCNC1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1462T>G r.(?) p.(Cys488Gly) Unknown - likely benign g.17794103T>G - KCNC1(NM_001112741.1):c.1462T>G (p.(Cys488Gly)) - KCNC1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1504+29C>T r.(=) p.(=) Unknown - likely benign g.17794174C>T g.17772627C>T KCNC1(NM_004976.4):c.1533C>T (p.I511=) - KCNC1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1548C>T r.(?) p.(Asn516=) Unknown - likely benign g.17801046C>T - KCNC1(NM_001112741.1):c.1548C>T (p.N516=) - KCNC1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1611G>A r.(?) p.(Ser537=) Unknown - likely benign g.17801109G>A g.17779562G>A KCNC1(NM_001112741.1):c.1611G>A (p.S537=) - KCNC1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1618C>T r.(?) p.(Arg540Cys) Unknown - VUS g.17801116C>T - KCNC1(NM_001112741.2):c.1618C>T (p.R540C) - KCNC1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1619G>A r.(?) p.(Arg540His) Unknown - likely benign g.17801117G>A - KCNC1(NM_001112741.1):c.1619G>A (p.(Arg540His), p.R540H) - KCNC1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1619G>A r.(?) p.(Arg540His) Unknown - likely benign g.17801117G>A - KCNC1(NM_001112741.1):c.1619G>A (p.(Arg540His), p.R540H) - KCNC1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1653C>T r.(?) p.(Thr551=) Unknown - likely benign g.17801151C>T g.17779604C>T KCNC1(NM_001112741.1):c.1653C>T (p.T551=) - KCNC1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1659G>T r.(?) p.(Glu553Asp) Unknown - likely benign g.17801157G>T g.17779610G>T KCNC1(NM_001112741.1):c.1659G>T (p.E553D) - KCNC1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1697T>A r.(?) p.(Leu566His) Unknown - VUS g.17803220T>A - KCNC1(NM_001112741.2):c.1697T>A (p.(Leu566His)) - KCNC1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.