Unique variants in the PNPLA1 gene

Information The variants shown are described using the NM_173676.2 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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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.-57G>A r.(?) p.(=) - likely benign g.36259120G>A g.36291343G>A PNPLA1(NM_001145716.2):c.-57G>A (p.(=)) - PNPLA1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 2 - c.174C>T r.(?) p.(Phe58=) - benign g.36260858C>T g.36293081C>T PNPLA1(NM_001145717.1):c.459C>T (p.F153=) - PNPLA1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
+?/. 1 - c.203C>T r.(?) p.(Pro68Leu) - likely pathogenic g.36260887C>T g.36293110C>T PNPLA1(NM_001145717.1):c.488C>T (p.P163L) - PNPLA1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.219+11C>T r.(=) p.(=) - benign g.36260914C>T g.36293137C>T - - PNPLA1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.406G>A r.(?) p.(Ala136Thr) - likely benign g.36262153G>A g.36294376G>A PNPLA1(NM_001145716.2):c.433G>A (p.(Ala145Thr)) - PNPLA1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.415C>T r.(?) p.(Pro139Ser) - likely pathogenic g.36262162C>T g.36294385C>T - - PNPLA1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 2 - c.419C>T r.(?) p.(Pro140Leu) - likely pathogenic g.36262166C>T - PNPLA1(NM_001145717.1):c.704C>T (p.P235L) - PNPLA1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 2 - c.460G>A r.(?) p.(Glu154Lys) - likely benign g.36263171G>A g.36295394G>A PNPLA1(NM_001145717.1):c.745G>A (p.E249K) - PNPLA1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-/. 1 - c.578A>G r.(?) p.(Glu193Gly) - benign g.36269725A>G g.36301948A>G - - PNPLA1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.613C>T r.(?) p.(Arg205Trp) - likely benign g.36269760C>T g.36301983C>T PNPLA1(NM_001145716.2):c.640C>T (p.(Arg214Trp)) - PNPLA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 2 - c.983C>A r.(?) p.(Pro328His) - benign g.36270130C>A g.36302353C>A PNPLA1(NM_001145717.1):c.1268C>A (p.P423H) - PNPLA1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-/. 1 - c.1184C>T r.(?) p.(Thr395Met) - benign g.36274153C>T g.36306376C>T - - PNPLA1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1279T>C r.(?) p.(Ser427Pro) - benign g.36275458T>C g.36307681T>C - - PNPLA1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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