Unique variants in the KRT14 gene

Information The variants shown are described using the NM_000526.4 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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.-9C>G r.(?) p.(=) - likely benign g.39743095G>C g.41586843G>C KRT14(NM_000526.4):c.-9C>G - KRT14_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.6C>T r.(?) p.(Thr2=) - benign g.39743081G>A g.41586829G>A KRT14(NM_000526.4):c.6C>T (p.T2=) - KRT14_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/., -?/. 2 - c.88C>T r.(?) p.(Arg30Cys) - VUS, likely benign g.39742999G>A g.41586747G>A KRT14(NM_000526.4):c.88C>T (p.R30C) - KRT14_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam
-?/. 1 - c.166C>T r.(?) p.(Arg56Cys) - likely benign g.39742921G>A g.41586669G>A KRT14(NM_000526.4):c.166C>T (p.R56C) - KRT14_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.188= r.(=) p.(Tyr63=) - benign g.39742899C>T g.41586647C>T KRT14(NM_000526.4):c.188G>A (p.C63Y) - KRT14_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.189C>T r.(?) p.(Tyr63=) - benign g.39742898G>A g.41586646G>A KRT14(NM_000526.4):c.189C>T (p.Y63=) - KRT14_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.193C>T r.(?) p.(Leu65=) - benign g.39742894G>A g.41586642G>A KRT14(NM_000526.4):c.193C>T (p.L65=) - KRT14_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.231C>T r.(?) p.(Ser77=) - benign g.39742856G>A g.41586604G>A KRT14(NM_000526.4):c.231C>T (p.S77=) - KRT14_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.280G>A r.(?) p.(Ala94Thr) - benign g.39742807C>T g.41586555C>T KRT14(NM_000526.4):c.280G>A (p.A94T) - KRT14_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.356T>A r.(?) p.(Met119Lys) - likely pathogenic g.39742731A>T g.41586479A>T KRT14(NM_000526.4):c.356T>A (p.M119K) - KRT14_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.369T>C r.(?) p.(Asn123=) - benign g.39742718A>G g.41586466A>G KRT14(NM_000526.4):c.369T>C (p.N123=) - KRT14_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.373C>T r.(?) p.(Arg125Cys) - pathogenic g.39742714G>A g.41586462G>A KRT14(NM_000526.4):c.373C>T (p.R125C) - KRT14_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/., +?/. 2 - c.374G>A r.(?) p.(Arg125His) - pathogenic, likely pathogenic g.39742713C>T g.41586461C>T KRT14(NM_000526.4):c.374G>A (p.R125H) - KRT14_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Groningen, Sha Hong
+/. 1 - c.419A>G r.(?) p.(Asn140Ser) - pathogenic g.39742668T>C g.41586416T>C KRT14(NM_000526.4):c.419A>G (p.N140S) - KRT14_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.442C>T r.(?) p.(Arg148Cys) - pathogenic g.39742645G>A g.41586393G>A KRT14(NM_000526.4):c.442C>T (p.R148C) - KRT14_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.463C>T r.(?) p.(Arg155Trp) - likely benign g.39742624G>A g.41586372G>A KRT14(NM_000526.4):c.463C>T (p.R155W) - KRT14_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.526-2A>C r.spl? p.? - pathogenic g.39741311T>G g.41585059T>G KRT14(NM_000526.4):c.526-2A>C - KRT14_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.927+1G>C r.spl? p.? - pathogenic g.39740011C>G - KRT14(NM_000526.4):c.927+1G>C - KRT14_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.1123_1125del r.(?) p.(Glu375del) - pathogenic g.39739638_39739640del g.41583386_41583388del KRT14(NM_000526.4):c.1123_1125delGAG (p.E375del) - KRT14_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.1130T>C r.(?) p.(Ile377Thr) - pathogenic g.39739631A>G g.41583379A>G KRT14(NM_000526.4):c.1130T>C (p.I377T) - KRT14_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.1162C>T r.(?) p.(Arg388Cys) - pathogenic g.39739599G>A g.41583347G>A KRT14(NM_000526.4):c.1162C>T (p.R388C) - KRT14_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1203G>A r.(?) p.(Leu401=) - likely benign g.39739558C>T g.41583306C>T KRT14(NM_000526.4):c.1203G>A (p.L401=) - KRT14_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1231_1233del r.(?) p.(Glu411del) - pathogenic g.39739530_39739532del g.41583278_41583280del KRT14(NM_000526.4):c.1231_1233delGAG (p.E411del) - KRT14_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.1237G>C r.(?) p.(Ala413Pro) - pathogenic g.39739524C>G g.41583272C>G KRT14(NM_000526.4):c.1237G>C (p.A413P) - KRT14_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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