Transcript #00001468

Transcript name mutS homolog 6 (E. coli)
Gene name MSH6 (mutS homolog 6 (E. coli))
Chromosome 2
Transcript - NCBI ID NM_000179.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000170.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

3670 entries on 37 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.1094ˆ1095G>A VUS r.(?) p.(Trp365*)
?/. 1 c.-13022_-1711del VUS r.? p.?
?/? 1 c.-13022_-1711del VUS r.? p.?
+/. 1_2i c.-11863_457+1921del pathogenic r.? p.?
+/+ 1_2i c.-11863_457+1921del pathogenic r.? p.?
+/. 1_2i c.-3097_457+2010del pathogenic r.? p.?
+/. 1_2i c.-3097_457+2010del pathogenic r.? p.?
+/+ 1_2i c.-3097_457+2010del pathogenic r.? p.?
?/. 1 c.-557T>G VUS r.(=) p.(=)
?/. 1 c.-557T>G VUS r.(=) p.(=)
?/. 1 c.-557T>G VUS r.(=) p.(=)
?/. 1 c.-557T>G VUS r.(=) p.(=)
-/- 1 c.-557T>G benign r.(=) p.(=)
?/. 1 c.-448G>A VUS r.(=) p.(=)
-/- 1 c.-448G>A benign r.(=) p.(=)
-/. - c.-448G>A benign r.(=) p.(=)
?/. 1 c.-210C>T VUS r.(=) p.(=)
-/- 1 c.-210C>T benign r.(=) p.(=)
?/. 1 c.-159C>T VUS r.(=) p.(=)
?/. 1 c.-159C>T VUS r.(=) p.(=)
?/. 1 c.-159C>T VUS r.(=) p.(=)
?/. 1 c.-159C>T VUS r.(=) p.(=)
-/- 1 c.-159C>T benign r.(=) p.(=)
+/. _1_1i c.(?_-152)_(260+1_261-1)del pathogenic r.? p.?
?/. _1_1i c.(?_-152)_(260+1_261-1)del VUS r.? p.?
+/. _1_2i c.(?_-152)_(457+1_458-1)del pathogenic r.? p.?
+/. _1_2i c.(?_-152)_(457+1_458-1)del pathogenic r.? p.?
+/. _1_2i c.(?_-152)_(457+1_458-1)del pathogenic r.? p.?
+/. _1_2i c.(?_-152)_(457+1_458-1)del pathogenic r.? p.?
+/+ _1_2i c.(?_-152)_(457+1_458-1)del pathogenic r.? p.?
+/. _1_10_ c.(?_-152)_(*93_?)del pathogenic r.? p.?
+?/. _1_10_ c.(?_-152)_(*93_?)del likely pathogenic r.? p.?
+/. _1_10_ c.(?_-152)_(*93_?)del pathogenic r.? p.?
+/+ _1_10_ c.(?_-152)_(*93_?)del pathogenic r.? p.?
+/. _1_10_ c.(?_-152)_(*93_?)del pathogenic r.? p.?
?/. 1 c.-118G>A VUS r.(=) p.(=)
?/. 1 c.-118G>A VUS r.(=) p.(=)
?/. 1 c.-118G>A VUS r.(=) p.(=)
?/. 1 c.-88G>A VUS r.(=) p.(=)
-?/-? 1 c.-88G>A likely benign r.(=) p.(=)
?/. 1 c.-18G>T VUS r.(=) p.(=)
?/. 1 c.-18G>T VUS r.(=) p.(=)
?/? 1 c.-18G>T VUS r.(=) p.(=)
?/. 1 c.-8C>T VUS r.(=) p.(=)
?/? 1 c.-8C>T VUS r.(=) p.(=)
+/. _1_3i c.(?_-1)_(645+1_646-1)del pathogenic r.? p.0?
?/. _1_6i c.(?_-1)_(3556+1_3557-1)del VUS r.? p.?
+/. _1_6i c.(?_-1)_(3556+1_3557-1)del pathogenic r.? p.?
+/. - c.(?_-152)_ (260+1_261-1)del pathogenic r.? p.?
+/. _1_2i c.(?_1)_(457+1_458-1)del pathogenic r.? p.?
?/. _1_2i c.(?_1)_(457+1_458-1)del VUS r.? p.?
+/. 1 c.3G>T pathogenic r.? p.?
+/. 1 c.3G>T pathogenic r.? p.?
+/. 1 c.3G>T pathogenic r.? p.?
+/. 1 c.3G>T pathogenic r.? p.?
+?/+? 1 c.3G>T likely pathogenic r.? p.?
+/. 1 c.23_26del pathogenic r.(?) p.Tyr8SerfsTer8
?/. 1 c.38A>C VUS r.(?) p.(Lys13Thr)
?/? 1 c.38A>C VUS r.(?) p.(Lys13Thr)
?/. 1 c.38A>C VUS r.(?) p.(Lys13Thr)
?/. 1 c.38A>C VUS r.(?) p.(Lys13Thr)
?/. 1 c.38A>C VUS r.(?) p.(Lys13Thr)
?/. 1 c.44C>T VUS r.(?) p.Pro15Leu
?/. 1 c.59C>T VUS r.(?) p.(Ala20Val)
?/. 1 c.59C>T VUS r.(?) p.(Ala20Val)
?/. 1 c.59C>T VUS r.(?) p.(Ala20Val)
?/. 1 c.59C>T VUS r.(?) p.(Ala20Val)
-?/. - c.59C>T likely benign r.(?) p.(Ala20Val)
-?/-? 1 c.59C>T likely benign r.(?) p.(Ala20Val)
?/. 1 c.59C>T VUS r.(?) p.(Ala20Val)
-?/. - c.59C>T likely benign r.(?) p.(Ala20Val)
-/. - c.59C>T benign r.(?) p.(Ala20Val)
?/. 1 c.62A>G VUS r.(?) p.(Asn21Ser)
?/? 1 c.62A>G VUS r.(?) p.(Asn21Ser)
-?/. 1 c.63C>G likely benign r.(?) p.(Asn21Lys)
-?/. 1 c.63C>G likely benign r.(?) p.(Asn21Lys)
?/. 1 c.63C>G VUS r.(?) p.(Asn21Lys)
+/. 1 c.71C>A pathogenic r.(?) p.(Ser24*)
?/. 1 c.73G>T VUS r.(?) p.(Ala25Ser)
?/. - c.73G>T VUS r.(?) p.(Ala25Ser)
?/. 1 c.73G>T VUS r.(?) p.(Ala25Ser)
?/. 1 c.73G>T VUS r.(?) p.(Ala25Ser)
-?/. - c.73G>T likely benign r.(?) p.(Ala25Ser)
?/. 1 c.73G>T VUS r.(?) p.(Ala25Ser)
?/. 1 c.73G>T VUS r.(?) p.(Ala25Ser)
?/. 1 c.73G>T VUS r.(?) p.(Ala25Ser)
?/. 1 c.73G>T VUS r.(?) p.(Ala25Ser)
?/? 1 c.73G>T VUS r.(?) p.(Ala25Ser)
?/. 1 c.73G>T VUS r.(?) p.(Ala25Ser)
?/. - c.73G>T VUS r.(?) p.(Ala25Ser)
?/. 1 c.73G>T VUS r.(?) p.(Ala25Ser)
-?/. - c.73G>T likely benign r.(?) p.(Ala25Ser)
-/. - c.73G>T benign r.(?) p.(Ala25Ser)
?/. - c.73G>T VUS r.(?) p.(Ala25Ser)
-?/. - c.94G>T likely benign r.(?) p.(Gly32Cys)
+/. - c.102del pathogenic r.(?) p.(Ala35Profs*46)
-?/. - c.107C>T ACMG: 2 r.(?) p.(Ala36Val)
-?/. - c.107C>T ACMG: 2 r.(?) p.Ala36Val
?/. 1 c.108T>G VUS r.(=) p.(=)
?/? 1 c.108T>G VUS r.(=) p.(=)
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