View transcript #00015

Transcript name transcript variant 1
Gene name MLH1 (mutL homolog 1)
Chromosome 3
Transcript - NCBI ID NM_000249.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000240.1
Protein - Ensembl ID -
Protein - Uniprot ID -


Variants

12 entries on 1 page. Showing entries 1 - 12.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. 01i c.116+1G>A r.spl? p.?
+/. 02 c.155_158del r.(?) p.(Lys52Argfs*4)
+/+ 02 c.199G>A r.(?) p.(Gly67Arg)
+/. 03 c.208A>G r.(?) p.(Lys70Glu)
+/. 03 c.244A>G r.(?) p.(Thr82Ala)
+/. 03 c.298C>T r.(?) p.(Arg100*)
+/. 03 c.350C>T r.(?) p.(Thr117Met)
+/. 05 c.382delG r.(?) p.(Ala128Glnfs*8)
+/. 08 c.665delA r.(?) p.(Asn222Metfs*7)
+/. 08 c.676C>T r.(?) p.(Arg226*)
+/. 08 c.677G>A r.(?) p.Gln197Argfs*8
+/. 08 c.677G>A r.(?) p.(Gln197Argfs*8)
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