Transcript #00013676

Transcript name transcript variant 1
Gene name MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli))
Chromosome 3
Transcript - NCBI ID NM_000249.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000240.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

9597 entries on 96 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

ClassClinical     
+/. - c.(?_-198)_1731+?del r.(?) p.? pathogenic
+/. - c.(?_-198)_306+?del r.(?) p.? pathogenic
+/. - c.(?_-198)_306+?del r.(?) p.? pathogenic
+/. - c.(?_-198)_306+?del r.(?) p.? pathogenic
?/. 12 c.1254T>R r.(?) p.(Asp418Glu) NA
?/. ? c.? r.(?) p.? VUS
?/. 5i_8i c.[453+625_545+921delinsTG;545+1271_677+737delinsCA] r.? p.Val152Argfs*8 VUS
?/. 5i_8i c.[453+625_545+921delinsTG;545+1271_677+737delinsCA] r.? p.Val152Argfs*8 VUS
+/+ 5i_8i c.[453+625_545+921delinsTG;545+1271_677+737delinsCA] r.? p.Val152Argfs*8 InSiGHT: 5
+/+ _1_19_ c.-73960_*46597del r.0? p.0? InSiGHT: 5
?/. _1_19_ c.-73960_*46597del r.0? p.0? VUS
+/. _1_19_ c.-73960_*46597del r.0? p.0? pathogenic
+?/. 1-19 c.(?_-71039)_(*22856_?)dup r.(?) p.(?) ACMG: 3
-/- _1 c.-4864C>A r.(=) p.(=) InSiGHT: 1
?/. _1 c.-4864C>A r.(=) p.(=) VUS
?/. _1 c.-4864C>A r.(=) p.(=) VUS
?/. _1 c.-593G>C r.(=) p.(=) VUS
?/. _1 c.-477T>C r.(=) p.(=) VUS
?/. _1 c.-435_-432del r.(=) p.(=) NA
?/. _1 c.-435_-432del r.(=) p.(=) VUS
?/. _1 c.-413_-411del r.(=) p.(=) NA
?/. _1 c.-413_-411del r.(=) p.(=) VUS
+/+ _1_2i c.-381_207+606del r.0? p.0? InSiGHT: 5
?/. _1_2i c.-381_207+606del r.0? p.0? VUS
?/. _1_2i c.-381_207+606del r.0? p.0? VUS
?/. _1 c.-369A>G r.(=) p.(=) VUS
?/. _1 c.-269C>G r.= p.= VUS
?/. _1 c.-269C>G r.= p.= VUS
?/. _1 c.-269C>G r.= p.= VUS
?/. _1 c.-269C>G r.(=) p.(=) VUS
?/. _1 c.-269C>G r.(=) p.(=) VUS
?/. _1 c.-269C>G r.(=) p.(=) VUS
?/. _1 c.-269C>G r.(=) p.(=) VUS
?/. _1 c.-269C>G r.(=) p.(=) VUS
?/. _1 c.-269C>G r.(=) p.(=) VUS
?/. _1 c.-269C>G r.(=) p.(=) VUS
?/. _1 c.-269C>G r.(=) p.(=) VUS
-?/. _1 c.-269C>G r.(=) p.(=) likely benign
?/. _1 c.-269C>G r.(=) p.(=) VUS
-?/-? _1 c.-269C>G r.(=) p.(=) InSiGHT: 2
?/. _1 c.-261G>A r.(=) p.(=) VUS
?/. _1 c.-230G>C r.(=) p.(=) VUS
+/+ _1_1i c.(?_-198)_(116+1_117-1)del r.0? p.0? InSiGHT: 5
?/. _1_1i c.(?_-198)_(116+1_117-1)del r.0? p.0? VUS
?/. _1_1i c.(?_-198)_(116+1_117-1)del r.0? p.0? VUS
?/. _1_1i c.(?_-198)_(116+1_117-1)del r.0? p.0? VUS
+/. _1_1i c.(?_-198)_(116+1_117-1)del r.0? p.0? pathogenic
?/? _1_1i c.(?_-198)_(116+1_117-1)dup r.0? p.0? InSiGHT: 3
?/. _1_1i c.(?_-198)_(116+1_117-1)dup r.0? p.0? VUS
+/+ _1_2i c.(?_-198)_(207+1_208-1)del r.0? p.0? InSiGHT: 5
?/. _1_2i c.(?_-198)_(207+1_208-1)del r.0? p.0? NA
?/. _1_2i c.(?_-198)_(207+1_208-1)del r.0? p.0? VUS
?/. _1_2i c.(?_-198)_(207+1_208-1)del r.0? p.0? VUS
?/. _1_2i c.(?_-198)_(207+1_208-1)del r.0? p.0? VUS
+/+ _1_3i c.(?_-198)_(306+1_307-1)del r.0? p.0? InSiGHT: 5
+/. _1_3i c.(?_-198)_(306+1_307-1)del r.0? p.0? pathogenic
?/. _1_3i c.(?_-198)_(306+1_307-1)del r.0? p.0? VUS
+/. _1_3i c.(?_-198)_(306+1_307-1)del r.0? p.0? pathogenic
+/. - c.(?_-198)_(306+1_307-1)del r.spl? p.? pathogenic
+/. 1-3 c.(?_-198)_(306+1_307-1)del r.? p.? 5
+/+ _1_4i c.(?_-198)_(380+1_381-1)del r.0? p.0? InSiGHT: 5
?/. _1_4i c.(?_-198)_(380+1_381-1)del r.0? p.0? VUS
+/+ _1_6i c.(?_-198)_(545+1_546-1)del r.0? p.0? InSiGHT: 5
?/. _1_6i c.(?_-198)_(545+1_546-1)del r.0? p.0? VUS
?/. _1_6i c.(?_-198)_(545+1_546-1)del r.0? p.0? VUS
?/. _1_6i c.(?_-198)_(545+1_546-1)del r.0? p.0? VUS
?/. _1_6i c.(?_-198)_(545+1_546-1)del r.0? p.0? VUS
?/. _1_6i c.(?_-198)_(545+1_546-1)del r.0? p.0? VUS
+/+ _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? InSiGHT: 5
+/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? pathogenic
+/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? pathogenic
+/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? pathogenic
+/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? pathogenic
+/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? pathogenic
?/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? VUS
?/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? VUS
?/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? VUS
?/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? VUS
?/. _1_10i c.(?_-198)_(884+1_885-1)del r.0? p.0? VUS
+/+ _1_11i c.(?_-198)_(1038+1_1039-1)del r.0? p.0? InSiGHT: 5
?/. _1_11i c.(?_-198)_(1038+1_1039-1)del r.0? p.0? VUS
+/+ _1_13i c.(?_-198)_(1558+1_1559-1)del r.0? p.0? InSiGHT: 5
?/. _1_13i c.(?_-198)_(1558+1_1559-1)del r.0? p.0? VUS
?/. _1_13i c.(?_-198)_(1558+1_1559-1)del r.0? p.0? VUS
?/. _1_13i c.(?_-198)_(1558+1_1559-1)del r.0? p.0? VUS
?/. _1_13i c.(?_-198)_(1558+1_1559-1)del r.0? p.0? VUS
?/. _1_13i c.(?_-198)_(1558+1_1559-1)del r.0? p.0? VUS
?/. _1_13i c.(?_-198)_(1558+1_1559-1)del r.0? p.0? VUS
?/. _1_13i c.(?_-198)_(1558+1_1559-1)del r.0? p.0? VUS
?/. _1_13i c.(?_-198)_(1558+1_1559-1)del r.0? p.0? VUS
+/+ _1_15i c.(?_-198)_(1731+1_1732-1)del r.0? p.0? InSiGHT: 5
?/. _1_15i c.(?_-198)_(1731+1_1732-1)del r.0? p.0? VUS
?/. _1_15i c.(?_-198)_(1731+1_1732-1)del r.0? p.0? VUS
?/. _1_15i c.(?_-198)_(1731+1_1732-1)del r.0? p.0? VUS
?/. _1_15i c.(?_-198)_(1731+1_1732-1)del r.0? p.0? VUS
?/. _1_15i c.(?_-198)_(1731+1_1732-1)del r.0? p.0? VUS
+/. _1_15i c.(?_-198)_(1731+1_1732-1)del r.0? p.0? pathogenic
?/. _1_15i c.(?_-198)_(1731+1_1732-1)del r.0? p.0? VUS
+/+ _1_19_ c.(?_-198)_(*193_?)del r.0? p.0? InSiGHT: 5
+/. _1_19_ c.(?_-198)_(*193_?)del r.0? p.0? pathogenic
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