Transcript #00010773

Transcript name keratin 14
Gene name KRT14 (keratin 14)
Chromosome 17
Transcript - NCBI ID NM_000526.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000517.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

24 entries on 1 page. Showing entries 1 - 24.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-9C>G likely benign r.(?) p.(=)
-/. - c.6C>T benign r.(?) p.(=)
?/. - c.88C>T VUS r.(?) p.(Arg30Cys)
-?/. - c.88C>T likely benign r.(?) p.(Arg30Cys)
-?/. - c.166C>T likely benign r.(?) p.(Arg56Cys)
-/. - c.188G>A benign r.(?) p.(Cys63Tyr)
-/. - c.189C>T benign r.(?) p.(=)
-/. - c.193C>T benign r.(?) p.(=)
-/. - c.231C>T benign r.(?) p.(=)
-/. - c.280G>A benign r.(?) p.(Ala94Thr)
+?/. - c.356T>A likely pathogenic r.(?) p.(Met119Lys)
-/. - c.369T>C benign r.(?) p.(=)
+/. - c.373C>T pathogenic r.(?) p.(Arg125Cys)
+/. - c.374G>A pathogenic r.(?) p.(Arg125His)
+/. - c.419A>G pathogenic r.(?) p.(Asn140Ser)
+/. - c.442C>T pathogenic r.(?) p.(Arg148Cys)
-?/. - c.463C>T likely benign r.(?) p.(Arg155Trp)
+/. - c.526-2A>C pathogenic r.spl? p.?
+/. - c.1123_1125del pathogenic r.(?) p.(Glu375del)
+/. - c.1130T>C pathogenic r.(?) p.(Ile377Thr)
+/. - c.1162C>T pathogenic r.(?) p.(Arg388Cys)
-?/. - c.1203G>A likely benign r.(?) p.(=)
+/. - c.1231_1233del pathogenic r.(?) p.(Glu411del)
+/. - c.1237G>C pathogenic r.(?) p.(Ala413Pro)
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