Unique variants in the KRT16 gene

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

31 entries on 1 page. Showing entries 1 - 31.
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 - c.5C>A r.(?) p.(Thr2Asn) - VUS g.39768936G>T g.41612684G>T KRT16(NM_005557.3):c.5C>A (p.T2N) - KRT16_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.43A>T r.(?) p.(Lys15Ter) - pathogenic g.39768898T>A g.41612646T>A - - KRT16_000032 - PubMed: Wilson 2011 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.60C>T r.(?) p.(Ile20=) - likely benign g.39768881G>A g.41612629G>A KRT16(NM_005557.4):c.60C>T (p.I20=) - KRT16_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.207C>A r.(?) p.(Gly69=) - likely benign g.39768734G>T g.41612482G>T KRT16(NM_005557.4):c.207C>A (p.G69=) - KRT16_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.229_231dup r.(?) p.(Ser77dup) - VUS g.39768723_39768725dup g.41612471_41612473dup KRT16(NM_005557.4):c.227_229dupAGC (p.S77dup) - KRT16_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 2 - c.362T>A r.(?) p.(Met121Lys) - pathogenic g.39768579A>T g.41612327A>T - - KRT16_000031 - PubMed: Wilson 2011, PubMed: Wilson 2014 - - Germline - - - - - Johan den Dunnen
+/. 2 - c.362T>C r.(?) p.(Met121Thr) - pathogenic g.39768579A>G g.41612327A>G - - KRT16_000030 - PubMed: Terrinoni 2001, PubMed: Wilson 2014 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 4 - c.371T>A r.(?) p.(Leu124His) - pathogenic g.39768570A>T g.41612318A>T - - KRT16_000029 - PubMed: Smith 2005, PubMed: Wilson 2011, PubMed: Wilson 2014 - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 2 - c.371T>C r.(?) p.(Leu124Pro) - pathogenic g.39768570A>G g.41612318A>G - - KRT16_000028 - PubMed: Smith 2005, PubMed: Wilson 2011 - - Germline, Germline/De novo (untested) - - Xcm+ - - Johan den Dunnen
+/. 1 - c.371_373del r.(?) p.(Leu124_Asn125delinsHis) - pathogenic g.39768568_39768570del g.41612316_41612318del 371_373delTCA - KRT16_000027 - PubMed: Wilson 2011 - - Germline - - - - - Johan den Dunnen
+/. 2 - c.373A>G r.(?) p.(Asn125Asp) - pathogenic g.39768568T>C g.41612316T>C - - KRT16_000026 - PubMed: Smith 2005, PubMed: Wilson 2014 - - Germline - - - - - Johan den Dunnen
+/. 2 - c.373_374delinsGG r.(?) p.(Asn125Gly) - pathogenic (dominant) g.39768567_39768568delinsCC - AA373_374GG - KRT16_000015 - PubMed: Du 2012 - - Germline yes - - - - Johan den Dunnen
+/. 14 - c.374A>G r.(?) p.(Asn125Ser) - pathogenic g.39768567T>C g.41612315T>C 374A>G - KRT16_000025 - PubMed: Liao 2007, PubMed: Smith 2005, PubMed: Wilson 2011, PubMed: Wilson 2014 - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 - c.379C>A r.(?) p.(Arg127Ser) - pathogenic g.39768562G>T g.41612310G>T - - KRT16_000024 - PubMed: Wilson 2014 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.379C>G r.(?) p.(Arg127Gly) - pathogenic g.39768562G>C g.41612310G>C - - KRT16_000023 - PubMed: Wilson 2014 - - Germline - - - - - Johan den Dunnen
+/. 12 - c.379C>T r.(?) p.(Arg127Cys) - pathogenic g.39768562G>A g.41612310G>A KRT16(NM_005557.4):c.379C>T (p.R127C) - KRT16_000009 VKGL data sharing initiative Nederland PubMed: Smith 2005, PubMed: Wilson 2011, PubMed: Wilson 2014 - - CLASSIFICATION record, Germline, Germline/De novo (untested) - - - - - Johan den Dunnen, VKGL-NL_Groningen
+/. 2 - c.380G>A r.(?) p.(Arg127His) - pathogenic g.39768561C>T g.41612309C>T c.381G>A (Arg127His) - KRT16_000008 VKGL data sharing initiative Nederland PubMed: Wilson 2014 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+/. 3 - c.380G>C r.(?) p.(Arg127Pro) - pathogenic g.39768561C>G g.41612309C>G - - KRT16_000022 - PubMed: Liao 2007, PubMed: Wilson 2011, PubMed: Wilson 2014 - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 2 - c.383T>A r.(?) p.(Leu128Gln) - pathogenic g.39768558A>T g.41612306A>T - - KRT16_000021 - PubMed: Liao 2007, PubMed: Terrinoni 2001 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 4 - c.389_391del r.(?) p.(Ser130del) - pathogenic g.39768553_39768555del g.41612301_41612303del 389_391delCCT, c.389-391delCCT - KRT16_000020 - PubMed: Wilson 2011, PubMed: Wilson 2014 - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 11 - c.395T>C r.(?) p.(Leu132Pro) - pathogenic g.39768546A>G g.41612294A>G 395T>C - KRT16_000019 - PubMed: Smith 2005, PubMed: Wilson 2011, PubMed: Wilson 2014 - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. 1 2i c.614+55C>T r.(?) p.(=) - likely benign g.39767836G>A g.41611584G>A - - KRT16_000001 - - - - Germline - - - - - Yu Sun
-/. 1 - c.624T>C r.(?) p.(His208=) - benign g.39767744A>G g.41611492A>G KRT16(NM_005557.4):c.624T>C (p.H208=) - KRT16_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.674G>A r.(?) p.(Arg225Gln) - likely benign g.39767694C>T g.41611442C>T KRT16(NM_005557.4):c.674G>A (p.R225Q) - KRT16_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.887T>C r.(?) p.(Met296Thr) - VUS g.39767367A>G g.41611115A>G - - KRT16_000014 18 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145649029 Germline - 18/2795 individuals - - - Mohammed Faruq
+/. 1 - c.1052_1059+16del r.spl p.? - pathogenic g.39767096_39767119del g.41610844_41610867del c.1052_1059+16del24 - KRT16_000018 - PubMed: Liao 2007 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. 1 - c.1180G>T r.(?) p.(Glu394Ter) - VUS g.39766683C>A g.41610431C>A KRT16(NM_005557.3):c.1180G>T (p.E394*) - KRT16_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 6 c.1223C>T r.(?) p.(Thr408Met) - VUS g.39766640G>A g.41610388G>A - - KRT16_000002 not associated with disease phenotype PubMed: Corbett 2011, Journal: Corbett 2011 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.1253G>C r.(?) p.(Arg418Pro) - pathogenic g.39766610C>G g.41610358C>G - - KRT16_000017 - PubMed: Wilson 2014 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.1253_1258del r.(?) p.(Arg418_Arg419del) - pathogenic g.39766607_39766612del g.41610355_41610360del c.1253_1258delGCCGCC - KRT16_000016 - PubMed: Wilson 2014 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.1281-16T>C r.(=) p.(=) - benign g.39766504A>G g.41610252A>G KRT16(NM_005557.4):c.1281-16T>C - KRT16_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
Legend   How to query