Transcript #00010992

Transcript name lecithin-cholesterol acyltransferase
Gene name LCAT (lecithin-cholesterol acyltransferase)
Chromosome 16
Transcript - NCBI ID NM_000229.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_000220.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

35 entries on 1 page. Showing entries 1 - 35.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.35C>T likely benign r.(?) p.(Thr12Met)
?/. - c.80T>C VUS r.(?) p.(Leu27Pro)
+/. - c.101C>A pathogenic r.(?) p.(Pro34Gln)
+/. - c.101C>T pathogenic r.(?) p.(Pro34Leu)
-/. - c.102G>A benign r.(=) p.(=)
+/. - c.138_139del pathogenic r.(?) p.(Arg47Alafs*55)
+/. - c.167T>C pathogenic r.(?) p.(Leu56Pro)
?/. - c.209T>C VUS r.(?) p.(Val70Ala)
-/. - c.312-10del benign r.(=) p.(=)
-/. - c.312-7C>T benign r.(=) p.(=)
-/. - c.312-5C>G benign r.spl? p.?
-/. - c.340G>A benign r.(?) p.(Val114Met)
+?/. - c.368G>A likely pathogenic r.(?) p.(Arg123His)
-/. - c.369C>T benign r.(=) p.(=)
?/. - c.382G>A VUS r.(?) p.(Gly128Ser)
+?/. - c.398T>C likely pathogenic r.(?) p.(Val133Ala)
+/. 4 c.440C>T - r.440c>u p.Thr147Ile
+/. - c.440C>T pathogenic r.(?) p.(Thr147Ile)
-/. - c.523+15G>A benign r.(=) p.(=)
+/. 4i c.524-22T>C - r.523_524ins[523+1_524-23;c;524-21_524-1] p.Gln176Glufs*6
-/. - c.576C>T benign r.(=) p.(=)
-/. - c.591G>A benign r.(=) p.(=)
+/. - c.605T>C pathogenic r.(?) p.(Ile202Thr)
-/. - c.694T>A benign r.(?) p.(Ser232Thr)
+/. - c.698T>C pathogenic r.(?) p.(Leu233Pro)
-/. - c.786G>A benign r.(=) p.(=)
?/. - c.809C>T VUS r.(?) p.(Thr270Ile)
+?/. - c.821C>T likely pathogenic r.(?) p.(Pro274Leu)
-?/. - c.879C>T likely benign r.(=) p.(=)
-?/. - c.899G>A likely benign r.(?) p.(Arg300His)
+/. - c.964C>T pathogenic r.(?) p.(Arg322Cys)
-?/. - c.981A>C likely benign r.(=) p.(=)
+/. - c.1039C>T pathogenic r.(?) p.(Arg347Cys)
-/. - c.1056C>T benign r.(=) p.(=)
-?/. - c.1132G>A likely benign r.(?) p.(Glu378Lys)
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