Unique variants in gene POLG2

Information The variants shown are described using the NM_007215.3 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 1 - c.320G>A r.(?) p.(Arg107Gln) - VUS g.62492767C>T g.64496649C>T - - DDX5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.505G>A r.(?) p.(Ala169Thr) - benign g.62492582C>T g.64496464C>T POLG2(NM_007215.3):c.505G>A (p.A169T) - POLG2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
-?/. 1 - c.694G>A r.(?) p.(Gly232Ser) - likely benign g.62488885C>T g.64492768C>T - - POLG2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.983G>A r.(?) p.(Arg328Gln) - VUS g.62481972C>T g.64485855C>T POLG2(NM_007215.3):c.983G>A (p.R328Q) - POLG2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 2 - c.1105A>G r.(?) p.(Arg369Gly) - likely benign g.62481850T>C g.64485733T>C - - POLG2_000009 116 heterozygous; Clinindb (India), 2 homozygous; Clinindb (India) Faruq 2020, submtted - rs201936720 Germline - 116/2795 individuals, 2/2795 individuals - - - Mohammed Faruq
?/. 1 - c.1109A>G r.(?) p.(Lys370Arg) - VUS g.62481846T>C g.64485729T>C - - POLG2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1158T>G r.(?) p.(Asp386Glu) - benign g.62479069A>C g.64482952A>C POLG2(NM_007215.3):c.1158T>G (p.D386E) - POLG2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.1191+7dup r.(=) p.(=) - benign g.62479030dup g.64482913dup POLG2(NM_007215.3):c.1191+5_1191+6insT - POLG2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., -?/. 2 - c.1247G>C r.(?) p.(Gly416Ala) - benign, likely benign g.62476451C>G g.64480334C>G POLG2(NM_007215.3):c.1247G>C (p.G416A) - POLG2_000001 suspected POLG2-mutation, VKGL data sharing initiative Nederland - - rs17850455 Germline, CLASSIFICATION record - - - - - Andreas Laner, VKGL-NL_Utrecht
-/. 1 - c.1269C>T r.(?) p.(Ser423=) - benign g.62476429G>A g.64480312G>A - - POLG2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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