Transcript #00000191

Transcript name dyskeratosis congenita 1, dyskerin, transcript variant 1
Gene name DKC1 (dyskeratosis congenita 1, dyskerin)
Chromosome X
Transcript - NCBI ID NM_001363.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_001354.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

140 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
./. - c.-425400_*717287dup - - - -
+/. 1 c.-142C>G - r.(?) p.(=) 5'UTR
-?/. - c.-142C>G likely benign r.(?) p.(=) -
+/. 1 c.-141C>G - r.(?) p.(=) 5'UTR
-?/. - c.-19G>C likely benign r.(?) p.(=) -
+/. 1 c.5C>T - r.(?) p.(Ala2Val) -
+/. 1i c.16+592C>G - r.[16_17ins16+343_16+589,=] p.[Val6Alafs*5,=] -
+/. 2 c.29C>T - r.(?) p.(Pro10Leu) -
+/. 2i c.85-5C>G - r.spl p.? -
+/. 3 c.91C>A - r.(?) p.(Gln31Lys) -
+/. 3 c.91C>G - r.(?) p.(Gln31Glu) -
+/. - c.103G>A pathogenic r.(?) p.(Glu35Lys) -
+/. 3 c.106T>G - r.(?) p.(Phe36Val) -
+/. 3 c.106T>G - r.(?) p.(Phe36Val) -
+/. 3 c.109_111del - r.(?) p.(Leu37del) -
+/. 3 c.113T>C - r.(?) p.(Ile38Thr) -
+/. 3 c.114C>G - r.(?) p.(Ile38Met) -
+/. 3 c.115A>G - r.(?) p.(Lys39Glu) -
+/. - c.119C>G pathogenic r.(?) p.(Pro40Arg) -
+/. 3 c.119C>G - r.(?) p.(Pro40Arg) -
+/. 3 c.119C>G - r.(?) p.(Pro40Arg) -
+/. 3 c.121G>A - r.(?) p.(Glu41Lys) -
+/. 3 c.127A>G - r.(?) p.(Lys43Glu) -
?/. - c.128A>G VUS r.(?) p.(Lys43Arg) -
+/. 3 c.145A>T - r.(?) p.(Thr49Ser) -
+/. - c.146C>T pathogenic r.(?) p.(Thr49Met) -
+/. 3 c.146C>T - r.(?) p.(Thr49Met) -
+/. 3 c.166_167delinsTC - r.(?) p.(Leu56Ser) -
+/. 4 c.194G>C - r.(?) p.(Arg65Thr) -
?/. 4 c.196A>G - r.(?) p.(Thr66Ala) -
+/. 4 c.196A>G - r.(?) p.(Thr66Ala) -
+/. 4 c.196A>G - r.(?) p.(Thr66Ala) -
+/. 4 c.200C>T - r.(?) p.(Thr67Ile) -
+/. 4 c.202C>T - r.(?) p.(His68Tyr) -
+/. 4 c.204C>A - r.(?) p.(His68Gln) -
+/. 4 c.214C>T - r.(?) p.(Leu72Phe) -
+/. 4 c.214_215delinsTA - r.(?) p.(Leu72Tyr) -
+/. 4 c.214_215delinsTA - r.(?) p.(Leu72Tyr) -
+/. 4 c.227C>T - r.(?) p.(Ser76Leu) -
-?/. 4i c.264-22del - r.(?) p.(=) -
-?/. - c.264-10T>C likely benign r.(=) p.(=) -
-?/. - c.264-9C>T likely benign r.(=) p.(=) -
-?/. - c.264-8C>T likely benign r.(=) p.(=) -
-?/. - c.264-7A>T likely benign r.(=) p.(=) -
-?/. - c.354A>C likely benign r.(?) p.(=) -
+/. - c.361A>G pathogenic r.(?) p.(Ser121Gly) -
+/. 5 c.361A>G - r.(?) p.(Ser121Gly) TruB
?/. 5 c.369G>T - r.(?) p.(=) -
-/. - c.369G>T benign r.(?) p.(=) -
?/. 5 c.369G>T - r.(?) p.(=) -
+/. 6 c.472C>T - r.(?) p.(Arg158Trp) TruB
?/. - c.493G>A VUS r.(?) p.(Gly165Arg) -
-?/. - c.497G>T likely benign r.(?) p.(Gly166Val) -
?/. - c.641-238A>T - - p.(=) -
?/. - c.641-238A>T - - p.(=) -
?/. - c.641-163C>T - - p.(=) -
?/. - c.641-163C>T - - p.(=) -
?/. - c.772-319G>A - - p.(=) -
?/. - c.772-319G>A - - p.(=) -
-?/. 8i c.772-151_772-148del - r.(?) p.(=) -
-?/. 8i c.772-147del - r.(?) p.(=) -
-/. - c.776A>C benign r.(?) p.(His259Pro) -
-?/. - c.776A>C likely benign r.(?) p.(His259Pro) -
+?/. - c.838A>C likely pathogenic r.(?) p.(Ser280Arg) -
?/. - c.838A>C VUS r.(?) p.(Ser280Arg) -
+/. 9 c.838A>C - r.(?) p.(Ser280Arg) -
?/. - c.838A>C VUS r.(?) p.(Ser280Arg) -
-?/. - c.888T>C likely benign r.(?) p.(=) -
+/. 9 c.911G>A - r.(?) p.(Ser304Asn) PUA
-?/. - c.915+8C>T likely benign r.(=) p.(=) -
-?/. - c.915+8C>T likely benign r.(=) p.(=) -
+/. 10 c.941A>G - r.(?) p.(Lys314Arg) PUA
+/. 10 c.949C>G - r.(?) p.(Leu317Val) PUA
+/. 10 c.949C>T - r.(?) p.(Leu317Phe) -
+/. 10 c.949C>T - r.(?) p.(Leu317Phe) PUA
+/. 10 c.961C>G - r.(?) p.(Leu321Val) PUA
+/. 10 c.965G>A - r.(?) p.(Arg322Gln) -
+/. 10 c.965G>A - r.(?) p.(Arg322Gln) PUA
+/. 11 c.1049T>C - r.(?) p.(Met350Thr) PUA
+/. 11 c.1049T>C - r.(?) p.(Met350Thr) -
+/. 11 c.1050G>A - r.(?) p.(Met350Ile) PUA
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) -
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) PUA
+/. - c.1058C>T pathogenic r.(?) p.(Ala353Val) -
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) -
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) -
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) -
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) -
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) -
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) -
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) -
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) -
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) -
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) -
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) -
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) -
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) -
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) -
+/. 11 c.1069A>G - r.(?) p.(Thr357Ala) PUA
+/. 11 c.1075G>A - r.(?) p.(Asp359Asn) PUA
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