All transcript variants in gene KRT16

Information The variants shown are described using the NM_005557.3 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-?/. - c.60C>T likely benign r.(?) p.(=) g.39768881G>A - KRT16(NM_005557.3):c.60C>T (p.I20=) - KRT16_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.207C>A likely benign r.(?) p.(=) g.39768734G>T - KRT16(NM_005557.3):c.207C>A (p.G69=) - KRT16_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.229_231dup VUS r.(?) p.(Ser77dup) g.39768723_39768725dup - KRT16(NM_005557.3):c.227_229dupAGC (p.S77dup) - KRT16_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.379C>T pathogenic r.(?) p.(Arg127Cys) g.39768562G>A - KRT16(NM_005557.3):c.379C>T (p.R127C) - KRT16_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.380G>A pathogenic r.(?) p.(Arg127His) g.39768561C>T - KRT16():c.380G>A (p.(Arg127His)) - KRT16_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2i c.614+55C>T - r.(?) p.(=) g.39767836G>A g.41611584G>A - - KRT16_000001 - - - - Germline - - - 0 - Yu Sun
-/. - c.624T>C benign r.(?) p.(=) g.39767744A>G - KRT16(NM_005557.3):c.624T>C (p.H208=) - KRT16_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. 6 c.1223C>T - r.(?) p.(Thr408Met) g.39766640G>A g.41610388G>A - - KRT16_000002 not associated with disease phenotype PubMed: Corbett 2011, Journal: Corbett 2011 - - Germline - - - 0 - Johan den Dunnen
-/. - c.1281-16T>C benign r.(=) p.(=) g.39766504A>G - KRT16(NM_005557.3):c.1281-16T>C - KRT16_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
Legend