All variants in the KRT8 gene

Information The variants shown are described using the NM_002273.3 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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Effect     

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     
-?/. - c.-46742_-46738del r.(?) p.(=) - likely benign g.53345505_53345509del g.52951721_52951725del KRT18(NM_000224.2):c.823-12_823-8del (p.(=)) - KRT8_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-46531C>G r.(?) p.(=) - likely benign g.53345296G>C g.52951512G>C KRT18(NM_000224.2):c.689G>C (p.(Ser230Thr)) - KRT8_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-45343G>C r.(?) p.(=) - likely benign g.53344108C>G - KRT18(NM_000224.3):c.418-4C>G - KRT8_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.-44553G>A r.(?) p.(=) - benign g.53343318C>T g.52949534C>T KRT18(NM_000224.3):c.361C>T (p.P121S), KRT8(NM_001256293.2):c.-47+181G>A - KRT8_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-44508G>A r.(?) p.(=) - benign g.53343273C>T g.52949489C>T KRT18(NM_000224.3):c.316C>T (p.R106W), KRT8(NM_001256293.2):c.-47+226G>A - KRT8_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-44501G>A r.(?) p.(=) - benign g.53343266C>T g.52949482C>T KRT18(NM_000224.3):c.309C>T (p.T103=), KRT8(NM_001256293.2):c.-47+233G>A - KRT8_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-44500G>T r.(?) p.(=) - benign g.53343265C>A g.52949481C>A KRT18(NM_000224.3):c.308C>A (p.T103N), KRT8(NM_001256293.2):c.-47+234G>T - KRT8_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.-44492G>C r.(?) p.(=) - likely benign g.53343257C>G g.52949473C>G KRT18(NM_000224.2):c.300C>G (p.(Ser100Arg)), KRT18(NM_000224.3):c.300C>G (p.S100R), KRT8(NM_001256293.2):c.-47+242G>C - KRT18_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.-44492G>C r.(?) p.(=) - benign g.53343257C>G g.52949473C>G KRT18(NM_000224.2):c.300C>G (p.(Ser100Arg)), KRT18(NM_000224.3):c.300C>G (p.S100R), KRT8(NM_001256293.2):c.-47+242G>C - KRT18_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-44471A>G r.(?) p.(=) - benign g.53343236T>C g.52949452T>C KRT18(NM_000224.3):c.279T>C (p.S93=), KRT8(NM_001256293.2):c.-47+263A>G - KRT8_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.-44466C>G r.(?) p.(=) - likely benign g.53343231G>C g.52949447G>C KRT18(NM_000224.2):c.274G>C (p.(Ala92Pro)), KRT18(NM_000224.3):c.274G>C (p.A92P), KRT8(NM_001256293.2):c.-47+268C>G - KRT18_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.-44466C>G r.(?) p.(=) - benign g.53343231G>C g.52949447G>C KRT18(NM_000224.2):c.274G>C (p.(Ala92Pro)), KRT18(NM_000224.3):c.274G>C (p.A92P), KRT8(NM_001256293.2):c.-47+268C>G - KRT18_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.-44460G>A r.(?) p.(=) - likely benign g.53343225C>T g.52949441C>T KRT18(NM_000224.2):c.268C>T (p.(Arg90Cys)), KRT18(NM_000224.3):c.268C>T (p.R90C), KRT8(NM_001256293.2):c.-47+274G>A - KRT18_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.-44460G>A r.(?) p.(=) - benign g.53343225C>T g.52949441C>T KRT18(NM_000224.2):c.268C>T (p.(Arg90Cys)), KRT18(NM_000224.3):c.268C>T (p.R90C), KRT8(NM_001256293.2):c.-47+274G>A - KRT18_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.-44444C>T r.(?) p.(=) - likely benign g.53343209G>A g.52949425G>A KRT18(NM_000224.2):c.252G>A (p.(Met84Ile)) - KRT18_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-44393T>C r.(?) p.(=) - likely benign g.53343158A>G g.52949374A>G KRT18(NM_000224.2):c.201A>G (p.(Ile67Met)) - KRT8_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-44367_-44366insT r.(?) p.(=) - likely benign g.53343131_53343132insA g.52949347_52949348insA KRT18(NM_000224.2):c.174_175insA (p.(Gly59ArgfsTer97)), KRT18(NM_000224.2):c.174_175insA (p.G59Rfs*97) - KRT18_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-44367_-44366insT r.(?) p.(=) - VUS g.53343131_53343132insA g.52949347_52949348insA KRT18(NM_000224.2):c.174_175insA (p.(Gly59ArgfsTer97)), KRT18(NM_000224.2):c.174_175insA (p.G59Rfs*97) - KRT18_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-44359C>T r.(?) p.(=) - likely benign g.53343124G>A g.52949340G>A KRT18(NM_000224.2):c.167G>A (p.(Gly56Asp)) - KRT18_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-44333G>A r.(?) p.(=) - VUS g.53343098C>T g.52949314C>T KRT18(NM_000224.2):c.141C>T (p.(=)) - KRT8_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-44327C>A r.(?) p.(=) - likely benign g.53343092G>T g.52949308G>T KRT18(NM_000224.3):c.135G>T (p.R45=) - KRT18_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.-44319C>A r.(?) p.(=) - VUS g.53343084G>T - KRT18(NM_000224.3):c.127G>T (p.(Gly43Cys)) - KRT8_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-44309A>G r.(?) p.(=) - VUS g.53343074T>C g.52949290T>C KRT18(NM_000224.2):c.117T>C (p.(=)) - KRT8_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-44306G>A r.(?) p.(=) - VUS g.53343071C>T g.52949287C>T KRT18(NM_000224.2):c.114C>T (p.(=)) - KRT8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-44304C>A r.(?) p.(=) - likely benign g.53343069G>T g.52949285G>T KRT18(NM_000224.2):c.112G>T (p.(Gly38Cys)) - KRT18_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-44294G>T r.(?) p.(=) - likely benign g.53343059C>A g.52949275C>A KRT18(NM_000224.2):c.102C>A (p.(Ser34Arg)) - KRT18_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-44186C>T r.(?) p.(=) - VUS g.53342951G>A g.52949167G>A KRT18(NM_000224.2):c.-7G>A (p.(=)) - KRT18_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.25T>G r.(?) p.(Ser9Ala) - likely benign g.53298741A>C - KRT8(NM_002273.3):c.25T>G (p.(Ser9Ala)) - KRT8_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.184G>T r.(?) p.(Gly62Cys) - likely benign g.53298582C>A g.52904798C>A - - KRT8_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.300_302del r.(?) p.(Asn100del) - VUS g.53298470_53298472del - KRT8(NM_001256282.1):c.384_386del (p.(Asn128del)) - KRT8_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1138G>A r.(?) p.(Val380Ile) - VUS g.53292527C>T g.52898743C>T KRT8(NM_001256282.1):c.1222G>A (p.(Val408Ile)) - KRT8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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