All transcript variants in gene PNPLA4

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

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

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     
?/. - c.181-76G>A - - p.(=) g.7890215C>T g.7922174C>T - - PNPLA4_000009 - - - - Germline - - - - - Yu Sun
?/. - c.181-76G>A - - p.(=) g.7890215C>T g.7922174C>T - - PNPLA4_000009 - - - - Germline - - - - - Yu Sun
-?/. 3 c.243A>G - r.(?) p.(=) g.7890077T>C - V81V - PNPLA4_000016 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.250G>A VUS r.(?) p.(Gly84Ser) g.7890070C>T - PNPLA4:c.250G>A (G84S) - PNPLA4_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.313G>A likely benign r.(?) p.(Glu105Lys) g.7889852C>T - PNPLA4:NM_001142389.1:c.313G>A, NM_001172672.1:c.52G>A, … - PNPLA4_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. 4 c.337G>A - r.(?) p.(Val113Ile) g.7889828C>T g.7921787C>T - - PNPLA4_000004 - - - - Germline - - - 0 - Muhammad Umair
?/. 6 c.484G>A - r.(?) p.(Val162Met) g.7870176C>T - V162M - PNPLA4_000015 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.523G>A likely benign r.(?) p.(Val175Ile) g.7870137C>T - PNPLA4:c.523G>A (V175I) - PNPLA4_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.559C>T likely pathogenic r.(?) p.(Arg187*) g.7870101G>A - PNPLA4:NM_001142389.1:c.559C>T (Arg187*) - PNPLA4_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.575C>T VUS r.(?) p.(Pro192Leu) g.7870085G>A - PNPLA4:NM_004650.2:c.575C>T - PNPLA4_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. 6 c.575C>T - r.(?) p.(Pro192Leu) g.7870085G>A - P192L - PNPLA4_000010 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.*995T>C - - p.(=) g.7867732A>G g.7899691A>G - - PNPLA4_000007 - - - - Germline - - - - - Yu Sun
?/. - c.*995T>C - - p.(=) g.7867732A>G g.7899691A>G - - PNPLA4_000007 - - - - Germline - - - - - Yu Sun
?/. - c.*1059C>G - - p.(=) g.7867668G>C g.7899627G>C - - PNPLA4_000005 - - - - Germline - - - - - Yu Sun
?/. - c.*1059C>G - - p.(=) g.7867668G>C g.7899627G>C - - PNPLA4_000005 - - - - Germline - - - - - Yu Sun
?/. - c.*1292C>T - - p.(=) g.7867435G>A g.7899394G>A - - PNPLA4_000006 - - - - Germline - - - - - Yu Sun
?/. - c.*1292C>T - - p.(=) g.7867435G>A g.7899394G>A - - PNPLA4_000006 - - - - Germline - - - - - Yu Sun
?/. - c.*1349A>G - - p.(=) g.7867378T>C g.7899337T>C - - PNPLA4_000008 - - - - Germline - - - - - Yu Sun
?/. - c.*1349A>G - - p.(=) g.7867378T>C g.7899337T>C - - PNPLA4_000008 - - - - Germline - - - - - Yu Sun
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