Unique variants in gene PNPLA4

Information The variants shown are described using the NM_004650.2 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.167C>T VUS r.(?) p.(Pro56Leu) g.7893994G>A - PNPLA4(NM_001142389.1):c.167C>T (p.(Pro56Leu)) - PNPLA4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.181-76G>A - - p.(=) g.7890215C>T g.7922174C>T - - PNPLA4_000009 - - - - Germline - - - - - Yu Sun
-?/. 2 3 c.243A>G likely benign r.(?) p.(=) g.7890077T>C - PNPLA4(NM_004650.2):c.243A>G (p.=), V81V - PNPLA4_000016 VKGL data sharing initiative Nederland, found once, nonrecurrent change PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - VKGL-NL, Lucy Raymond
?/. 1 - c.250G>A VUS r.(?) p.(Gly84Ser) g.7890070C>T - PNPLA4(NM_004650.2):c.250G>A (p.G84S) - PNPLA4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.313G>A likely benign r.(?) p.(Glu105Lys) g.7889852C>T - PNPLA4(NM_001142389.1):c.313G>A (p.(Glu105Lys), p.(Glu18Lys)) - PNPLA4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 2 4 c.337G>A likely benign r.(?) p.(Val113Ile) g.7889828C>T g.7921787C>T PNPLA4(NM_001142389.1):c.337G>A (p.(Val113Ile), p.(Val26Ile)) - PNPLA4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Muhammad Umair
?/. 1 6 c.484G>A - r.(?) p.(Val162Met) g.7870176C>T - V162M - PNPLA4_000015 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.523G>A likely benign r.(?) p.(Val175Ile) g.7870137C>T - PNPLA4(NM_004650.2):c.523G>A (p.V175I) - PNPLA4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.559C>T likely pathogenic r.(?) p.(Arg187*) g.7870101G>A - PNPLA4(NM_001142389.1):c.559C>T (p.(Arg187*)) - PNPLA4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 6 c.575C>T VUS r.(?) p.(Pro192Leu) g.7870085G>A - PNPLA4(NM_004650.2):c.575C>T (p.(Pro192Leu)), P192L - PNPLA4_000010 VKGL data sharing initiative Nederland, found once, nonrecurrent change PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - VKGL-NL, Lucy Raymond
-?/. 1 - c.731A>C likely benign r.(?) p.(Lys244Thr) g.7868758T>G - PNPLA4(NM_004650.2):c.731A>C (p.K244T) - PNPLA4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.*995T>C - - p.(=) g.7867732A>G g.7899691A>G - - PNPLA4_000007 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*1059C>G - - p.(=) g.7867668G>C g.7899627G>C - - PNPLA4_000005 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*1292C>T - - p.(=) g.7867435G>A g.7899394G>A - - PNPLA4_000006 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*1349A>G - - p.(=) g.7867378T>C g.7899337T>C - - PNPLA4_000008 - - - - Germline - - - - - Yu Sun
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