Transcript #00000051

Transcript name polymerase (DNA directed), gamma, transcript variant 1
Gene name POLG (polymerase (DNA directed), gamma)
Chromosome 15
Transcript - NCBI ID NM_001126131.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_002684.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

288 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.-3_1del VUS r.(?) p.(=)
?/. - c.32G>A VUS r.(?) p.(Gly11Asp)
?/. - c.32G>A VUS r.(?) p.(Gly11Asp)
-?/. - c.125G>A likely benign r.(?) p.(Arg42Gln)
-?/. - c.125_127dup likely benign r.(?) p.(Arg42dup)
?/. - c.125_127dup VUS r.(?) p.(Arg42dup)
-/. - c.127_128insGGCAGC benign r.(?) p.(Arg42_Gln43insArgGln)
?/. - c.128A>G VUS r.(?) p.(Gln43Arg)
-?/. - c.138_158dup likely benign r.(?) p.(Gln49_Gln55dup)
?/. - c.141_158del VUS r.(?) p.(Gln50_Gln55del)
-?/. - c.144_158del likely benign r.(?) p.(Gln51_Gln55del)
?/. - c.147_158del VUS r.(?) p.(Gln52_Gln55del)
-?/. - c.147_158del likely benign r.(?) p.(Gln52_Gln55del)
-?/. - c.150_158del likely benign r.(?) p.(Gln53_Gln55del)
-?/. - c.150_158del likely benign r.(?) p.(Gln53_Gln55del)
-/. - c.150_158del benign r.(?) p.(Gln53_Gln55del)
-?/. - c.150_158dup likely benign r.(?) p.(Gln53_Gln55dup)
-/. - c.153_158del benign r.(?) p.(Gln54_Gln55del)
-?/. - c.153_158del likely benign r.(?) p.(Gln54_Gln55del)
-/. - c.153_158dup benign r.(?) p.(Gln54_Gln55dup)
-?/. - c.153_158dup likely benign r.(?) p.(Gln54_Gln55dup)
-?/. - c.153_158dup likely benign r.(?) p.(Gln54_Gln55dup)
-/. - c.153_158dup benign r.(?) p.(Gln54_Gln55dup)
-?/. - c.156G>A likely benign r.(?) p.(=)
-/. - c.156_158del benign r.(?) p.(Gln55del)
-/. - c.156_158del benign r.(?) p.(Gln55del)
-/. - c.156_158del benign r.(?) p.(Gln55del)
-/. - c.156_158del benign r.(?) p.(Gln55del)
-/. - c.156_158del benign r.(?) p.(Gln55del)
-/. - c.156_158dup benign r.(?) p.(Gln55dup)
-/. - c.156_158dup benign r.(?) p.(Gln55dup)
-/. - c.156_158dup benign r.(?) p.(Gln55dup)
-?/. - c.156_158dup likely benign r.(?) p.(Gln55dup)
-?/. - c.253G>C likely benign r.(?) p.(Glu85Gln)
-?/. - c.264C>T likely benign r.(?) p.(=)
-?/. - c.264C>T likely benign r.(?) p.(=)
+?/. - c.276_298dup likely pathogenic r.(?) p.(Val100Glyfs*174)
-?/. - c.293C>T likely benign r.(?) p.(Ala98Val)
?/. - c.488C>T VUS r.(?) p.(Pro163Leu)
?/. - c.547G>C VUS r.(?) p.(Glu183Gln)
-?/. - c.678G>C likely benign r.(?) p.(Gln226His)
-?/. - c.678G>C likely benign r.(?) p.(Gln226His)
-?/. - c.693G>C likely benign r.(?) p.(Glu231Asp)
+/. - c.752C>T pathogenic r.(?) p.(Thr251Ile)
+/. - c.752C>T pathogenic r.(?) p.(Thr251Ile)
?/. - c.752C>T VUS r.(?) p.(Thr251Ile)
+/. - c.752C>T pathogenic r.(?) p.(Thr251Ile)
+/. - c.752C>T pathogenic r.(?) p.(Thr251Ile)
+?/. 3 c.752C>T - r.(?) p.(Thr251Ile)
+/. - c.752C>T pathogenic r.(?) p.(Thr251Ile)
+?/. 3 c.752C>T likely pathogenic r.(?) p.(Thr251Ile)
+/. - c.752C>T - r.(?) p.(Thr251Ile)
-?/. - c.798G>T likely benign r.(?) p.(=)
-?/. - c.798G>T likely benign r.(?) p.(=)
?/. - c.803G>C VUS r.(?) p.(Gly268Ala)
?/. - c.803G>C VUS r.(?) p.(Gly268Ala)
-?/. - c.803G>C likely benign r.(?) p.(Gly268Ala)
?/. - c.803G>C VUS r.(?) p.(Gly268Ala)
+/. - c.824G>A - r.(?) p.(Arg275Gln)
-?/. - c.852C>T likely benign r.(?) p.(=)
-?/. - c.856-5_856-3del likely benign r.spl? p.?
-?/. - c.856-5_856-3del likely benign r.spl? p.?
-?/. - c.856-5_856-3del likely benign r.spl? p.?
+/. - c.911T>G ACMG: 5 r.(?) p.(Leu304Arg)
?/. - c.926G>A VUS r.(?) p.(Arg309His)
-?/. - c.948G>A likely benign r.(?) p.(=)
-/. - c.948G>A benign r.(?) p.(=)
-?/. - c.948G>A likely benign r.(?) p.(=)
-/. - c.948G>A benign r.(?) p.(=)
-?/. - c.970C>A likely benign r.(?) p.(Pro324Thr)
?/. - c.970C>A VUS r.(?) p.(Pro324Thr)
-?/. - c.970C>A likely benign r.(?) p.(Pro324Thr)
-?/. - c.970C>T likely benign r.(?) p.(Pro324Ser)
-?/. - c.970C>T likely benign r.(?) p.(Pro324Ser)
-/. - c.970C>T benign r.(?) p.(Pro324Ser)
+/. - c.975del pathogenic r.(?) p.(Thr326Glnfs*39)
+/. - c.1091dup pathogenic r.(?) p.(Gly365Argfs*23)
-?/. - c.1126C>T likely benign r.(?) p.(=)
-/. - c.1126C>T benign r.(?) p.(=)
-?/. - c.1174C>G likely benign r.(?) p.(Leu392Val)
?/. - c.1174C>G VUS r.(?) p.(Leu392Val)
?/. - c.1174C>G VUS r.(?) p.(Leu392Val)
?/. - c.1174C>G VUS r.(?) p.(Leu392Val)
-?/. - c.1275C>T likely benign r.(?) p.(=)
-?/. - c.1275C>T likely benign r.(?) p.(=)
+/. - c.1276G>A pathogenic r.(?) p.(Gly426Ser)
+/. - c.1293del pathogenic r.(?) p.(Val432Serfs*28)
?/. - c.1370G>A VUS r.(?) p.(Arg457Gln)
-?/. - c.1386G>A likely benign r.(?) p.(=)
+/. - c.1399G>A pathogenic r.(?) p.(Ala467Thr)
+/. - c.1399G>A pathogenic r.(?) p.(Ala467Thr)
+/. - c.1399G>A pathogenic r.(?) p.(Ala467Thr)
+/. - c.1399G>A pathogenic (recessive) r.(?) p.(Ala467Thr)
+/. - c.1399G>A pathogenic r.(?) p.(Ala467Thr)
+/. - c.1399G>A pathogenic r.(?) p.(Ala467Thr)
+/. - c.1399G>A pathogenic r.(?) p.(Ala467Thr)
+/. - c.1402A>G pathogenic r.(?) p.(Asn468Asp)
+/. - c.1402A>G pathogenic r.(?) p.(Asn468Asp)
-?/. - c.1550G>T likely benign r.(?) p.(Gly517Val)
-?/. - c.1550G>T likely benign r.(?) p.(Gly517Val)
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