Transcript #00000145 (NM_000249.4, MLH1 gene)

Transcript name transcript variant 1
Gene name MLH1 (mutL homolog 1)
Chromosome 3
Transcript - NCBI ID NM_000249.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000240.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

10 entries on 1 page. Showing entries 1 - 10.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Review status     
+/+ 2 c.199G>A r.? p.(Gly67Arg) Hetero N/A -
+/+ 2-3i c.208-1G>A r.spl? p.? Hetero N/A -
?/? 3i c.306+4A>G r.? p.? Hetero no -
+?/+? 6 c.469dup r.(469dup) p.(Tyr157Leufs*15) Hetero no -
+?/+ 8i c.677+1G>A r.? p.? Hetero no -
+?/+? 10 c.794G>C r.? p.Arg265Pro Hetero no -
+?/+? 11i c.1410-2A>G r.? p.? Hetero no -
?/? 14 c.1633A>G r.? p.(Thr545Ala) Hetero no -
+/+ 16 c.1865T>A r.(1865u>a) (p.Leu622His) Hetero N/A -
+/+ 17 c.1937A>G r.? p.(Tyr646Cys) Hetero N/A -
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