Transcript #00016417

Transcript name transcript variant 1
Gene name PMS2 (PMS2 postmeiotic segregation increased 2 (S. cerevisiae))
Chromosome 7
Transcript - NCBI ID NM_000535.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_000526.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

1855 entries on 19 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. 5i_6i c.(537+1_538-1)_(705+1_706-1) pathogenic r.? p?
?/. 11 c.1875A>Y VUS r.(?) p.(Leu625Phe)
+/. 11 g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] pathogenic r.? p.?
+/. 11 g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] pathogenic r.? p.?
-/- _1 c.-2559T>A benign r.(?) p.(=)
?/. _1 c.-2559T>A VUS r.(=) p.(=)
-/- _1 c.-2146C>A benign r.(?) p.(=)
?/. _1 c.-2146C>A VUS r.(=) p.(=)
?/? _1 c.-963A>G VUS r.(?) p.(=)
?/. _1 c.-963A>G VUS r.(?) p.(=)
?/? _1 c.-340G>T VUS r.(?) p.(=)
?/. _1 c.-340G>T VUS r.(?) p.(=)
-/- _1 c.-323G>T benign r.(?) p.(=)
?/. _1 c.-323G>T VUS r.(=) p.(=)
-/- _1 c.-195T>C benign r.(?) p.(=)
?/. _1 c.-195T>C VUS r.(=) p.(=)
?/. _1 c.-195T>C VUS r.(=) p.(=)
-/. 1 c.-154C>G benign r.(?) p.(=)
-/. 1 c.-154C>G benign r.(?) p.(=)
-/. 1 c.-154C>G benign r.(?) p.(=)
-/. 1 c.-154C>G benign r.(?) p.(=)
-/- _1 c.-154C>G benign r.(?) p.(=)
?/. _1 c.-154C>G VUS r.(=) p.(=)
?/. _1 c.-154C>G VUS r.(=) p.(=)
?/. _1 c.-120del VUS r.(?) p.(=)
?/? _1 c.-101A>G VUS r.(?) p.(=)
?/. _1 c.-101A>G VUS r.(?) p.(=)
-/- _1 c.-93G>A benign r.(?) p.(=)
-?/. _1 c.-93G>A likely benign r.(=) p.(=)
-/. 1 c.-93G>C benign r.(?) p.(=)
+/+ 1i_2i c.(?_-87)_(23+1_24-1)del pathogenic r.0? p.0?
+/. 1 c.(?_-87)_(23+1_24-1)del pathogenic r.(?) p.?
+/+ _1_10i c.(?_-87)_(1144+1_1145-1)del pathogenic r.0? p.0?
+/. _1_10i c.(?_-87)_(1144+1_1145-1)del pathogenic r.(?) p.?
+/. _1_10i c.(?_-87)_(1144+1_1145-1)del pathogenic r.(?) p.?
+/. _1_12i c.(?_-87)_(2174+1_2175-1)del pathogenic r.? p.?
+/. _1_14i c.(?_-87)_(2445+1_2446-1)del pathogenic r.? p.?
+/+ _1_15_ c.(?_-87)_(*160_?)del pathogenic r.0? p.0?
+/. _1_15_ c.(?_-87)_(*160_?)del pathogenic r.(?) p.?
+/. _1_15_ c.(?_-87)_(*160_?)del pathogenic r.(?) p.?
+/. _1_15_ c.(?_-87)_(*160_?)del pathogenic r.(?) p.?
+/. _1_15_ c.(?_-87)_(*160_?)del pathogenic r.(?) p.?
+/. _1_15_ c.(?_-87)_(*160_?)del pathogenic r.(?) p.?
+/. _1_15_ c.(?_-87)_(*160_?)del pathogenic r.(?) p.?
+/. _1_15_ c.(?_-87)_(*160_?)del pathogenic r.(?) p.?
+/. _1_15_ c.(?_-87)_(*160_?)del pathogenic r.(?) p.?
+/. _1_15_ c.(?_-87)_(*160_?)del pathogenic r.? p.?
?/. 1 c.-77del VUS r.? p.?
?/. 1 c.-53G>A VUS r.(=) p.(=)
-?/. - c.-7T>C likely benign r.(?) p.(=)
+/. 1 c.1A>G pathogenic r.? p.0?
?/. 1 c.1A>G VUS r.? p.?
+?/. 1 c.1A>G likely pathogenic r.? p.Met1Val
+?/. - c.1A>G likely pathogenic r.(?) p.?
+?/. 1 c.1A>G likely pathogenic r.(?) p.?
+?/. 1 c.1A>G likely pathogenic r.(?) p.?
+?/. 1 c.1A>G likely pathogenic r.(?) p.?
+?/. 1 c.1A>G likely pathogenic r.(?) p.?
+?/. 1 c.1A>G likely pathogenic r.(?) p.?
+?/. 1 c.1A>G likely pathogenic r.(?) p.?
+/. 1 c.1A>G pathogenic r.(?) p.?
+/+? - c.1A>G 4 r.? p.?
+?/+? 1 c.2T>A likely pathogenic r.? p.?
?/. 1 c.2T>A VUS r.(?) p.0?
?/. 1 c.2T>A VUS r.(?) p.Met1?
?/. 1 c.2T>A VUS r.(?) p.Met1?
+?/. - c.2T>A likely pathogenic r.(?) p.?
+/. 1 c.3G>A pathogenic r.0? p.0?
?/. 1 c.11C>G VUS r.(?) p.(Ala4Gly)
-?/. - c.21G>C likely benign r.(?) p.(=)
-?/. - c.23+10G>C likely benign r.(=) p.(=)
-?/. 1i c.23+10G>C likely benign r.(=) p.(=)
-/. - c.23+10G>C benign r.(=) p.(=)
-/. - c.23+10G>C benign r.(=) p.(=)
-?/. - c.23+10G>C likely benign r.(=) p.(=)
-?/. - c.23+10G>C likely benign r.(=) p.(=)
-?/. - c.23+10G>C likely benign r.(=) p.(=)
-/. 1i c.23+12T>C benign r.(=) p.(=)
?/. 1i c.23+72C>T VUS r.(?) p.(=)
?/. 1i c.23+72C>T VUS r.(?) p.(=)
?/. 1i c.23+72C>T VUS r.(?) p.(=)
?/. 1i c.23+72C>T VUS r.(?) p.(=)
?/. 1i c.23+72C>T VUS r.(?) p.(=)
?/. 1i c.23+72C>T VUS r.(?) p.(=)
?/. 1i c.23+72C>T VUS r.(?) p.(=)
?/. 1i c.23+72C>T VUS r.(?) p.(=)
-/. - c.23+72C>T benign r.(=) p.(=)
?/. 1i c.23+72C>T VUS r.(?) p.(=)
?/. 1i c.23+72C>T VUS r.(?) p.?
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.? p.?
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.24_163del p.Ser8Argfs*5
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.24_163del p.Ser8Argfs*5
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.(?) p.?/(p.Ser8ArgfsX5)
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.(?) p.?/(p.Ser8ArgfsX5)
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.(?) p.?/(p.Ser8ArgfsX5)
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.(?) p.?/(p.Ser8ArgfsX5)
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.(?) p.?/(p.Ser8ArgfsX5)
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.(?) p.?
+/. - c.24-?_988+?del pathogenic r.(?) p.?
+/. - c.24-?_988+?del pathogenic r.(?) p.?
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