Transcript #00010769

Transcript name keratin 9
Gene name KRT9 (keratin 9)
Chromosome 17
Transcript - NCBI ID NM_000226.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000217.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

90 entries on 1 page. Showing entries 1 - 90.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.51T>G likely benign r.(?) p.(=)
-/. - c.195C>T benign r.(?) p.(=)
-/. 1 c.216C>T - r.(?) p.(=)
-?/. - c.245G>A likely benign r.(?) p.(Ser82Asn)
-?/. - c.347G>T likely benign r.(?) p.(Gly116Val)
-/. - c.351T>C benign r.(?) p.(=)
-/. 1 c.426A>C - r.(?) p.(=)
-/. 1 c.429A>C - r.(?) p.(=)
-/. - c.429A>C benign r.(?) p.(=)
-/. - c.429A>C benign r.(?) p.(=)
+/. 1 c.469A>G - r.(?) p.(Met157Val)
+/. 1 c.469A>G - r.(?) p.(Met157Val)
+/. 1 c.469A>G - r.(?) p.(Met157Val)
+/. 1 c.469A>G - r.(?) p.(Met157Val)
+/. 1 c.469A>G - r.(?) p.(Met157Val)
+/. 1 c.470T>A - r.(?) p.(Met157Lys)
+/. 1 c.470T>C - r.(?) p.(Met157Thr)
+/. 1 c.470T>C - r.(?) p.(Met157Thr)
+/. 1 c.470T>C - r.(?) p.(Met157Thr)
+/. 1 c.470T>C - r.(?) p.(Met157Thr)
+/. 1 c.470T>G - r.(?) p.(Met157Arg)
+/. 1 c.470T>G - r.(?) p.(Met157Arg)
+/. 1 c.478C>G - r.(?) p.(Leu160Val)
+/. 1 c.478C>T - r.(?) p.(Leu160Phe)
+/. 1 c.481A>C - r.(?) p.(Asn161His)
+/. 1 c.481A>C - r.(?) p.(Asn161His)
+/. 1 c.481A>T - r.(?) p.(Asn161Tyr)
+/. 1 c.482A>G - r.(?) p.(Asn161Ser)
+/. 1 c.482A>G - r.(?) p.(Asn161Ser)
+/. 1 c.482A>G - r.(?) p.(Asn161Ser)
+/. 1 c.482A>G - r.(?) p.(Asn161Ser)
+/. 1 c.482A>G - r.(?) p.(Asn161Ser)
+/. 1 c.482A>G - r.(?) p.(Asn161Ser)
+/. 1 c.482A>G - r.(?) p.(Asn161Ser)
+/. 1 c.482A>T - r.(?) p.(Asn161Ile)
+/. 1 c.482A>T - r.(?) p.(Asn161Ile)
+/. 1 c.483T>A - r.(?) p.(Asn161Lys)
+/. 1 c.484C>T - r.(?) p.(Pro162Ser)
+/. 1 c.487C>T - r.(?) p.(Arg163Trp)
+/. 1 c.487C>T - r.(?) p.(Arg163Trp)
+/. 1 c.487C>T - r.(?) p.(Arg163Trp)
+/. 1 c.487C>T - r.(?) p.(Arg163Trp)
+/. 1 c.487C>T - r.(?) p.(Arg163Trp)
+/. 1 c.487C>T - r.(?) p.(Arg163Trp)
+/. 1 c.487C>T - r.(?) p.(Arg163Trp)
+/. 1 c.487C>T - r.(?) p.(Arg163Trp)
+/. 1 c.487C>T - r.(?) p.(Arg163Trp)
+/. 1 c.487C>T - r.(?) p.(Arg163Trp)
+/. 1 c.487C>T - r.(?) p.(Arg163Trp)
+/. 1 c.487C>T - r.(?) p.(Arg163Trp)
+/. 1 c.487C>T - r.(?) p.(Arg163Trp)
+/. 1 c.487C>T - r.(?) p.(Arg163Trp)
+/. 1 c.487C>T - r.(?) p.(Arg163Trp)
+/. 1 c.487C>T - r.(?) p.(Arg163Trp)
+/. 1 c.487C>T - r.(?) p.(Arg163Trp)
+/. 1 c.487C>T - r.(?) p.(Arg163Trp)
+/. 1 c.487C>T - r.(?) p.(Arg163Trp)
+/. - c.487C>T pathogenic r.(?) p.(Arg163Trp)
+/. 1 c.487C>T - r.(?) p.(Arg163Trp)
+/. 1 c.487C>T - r.(?) p.(Arg163Trp)
+/. 1 c.487C>T - r.(?) p.(Arg163Trp)
+/. 1 c.488G>A - r.(?) p.(Arg163Gln)
+/. 1 c.488G>A - r.(?) p.(Arg163Gln)
+/. 1 c.488G>A - r.(?) p.(Arg163Gln)
+/. 1 c.488G>A - r.(?) p.(Arg163Gln)
+/. 1 c.488G>A - r.(?) p.(Arg163Gln)
+/. 1 c.488G>A - r.(?) p.(Arg163Gln)
+/. 1 c.488G>A - r.(?) p.(Arg163Gln)
+/. 1 c.488G>A - r.(?) p.(Arg163Gln)
+/. 1 c.488G>A - r.(?) p.(Arg163Gln)
+/. 1 c.488G>A - r.(?) p.(Arg163Gln)
+/. 1 c.488G>C - r.(?) p.(Arg163Pro)
+/. 1 c.500delAinsGGCT - r.(?) p.(Tyr167delinsTrpLeu)
+/. 1 c.500delAinsGGCT - r.(?) p.(Tyr167delinsTrpLeu)
+/. 1 c.500delAinsGGCT - r.(?) p.(Tyr167delinsTrpLeu)
+/. 1 c.500_500delinsGGCT - r.(?) p.(Tyr167delinsTrpLeu)
+/. 1 c.503T>C - r.(?) p.(Leu168Ser)
+/. 1 c.503T>C - r.(?) p.(Leu168Ser)
+/. 1 c.503T>C - r.(?) p.(Leu168Ser)
+/. 1 c.508A>T - r.(?) p.(Lys170*)
-?/. - c.510G>A likely benign r.(?) p.(=)
+/. 1 c.511G>A - r.(?) p.(Val171Met)
+/. 1 c.515A>C - r.(?) p.(Gln172Pro)
?/. - c.643-5_643-4dup VUS r.spl? p.?
-/. - c.726-9G>T benign r.(=) p.(=)
?/. - c.1216T>C VUS r.(?) p.(Cys406Arg)
+/. 6 c.1360T>C - r.(?) p.(Tyr454His)
+/. 6 c.1362_1363dup - r.(?) p.(His455dup)
+/. 6 c.1372C>T - r.(?) p.(Leu458Phe)
-/. - c.1407A>T benign r.(?) p.(=)
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