Transcript #00000367

Transcript name transcript variant 1
Gene name PNPLA4 (patatin-like phospholipase domain containing 4)
Chromosome X
Transcript - NCBI ID NM_004650.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_004641.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

23 entries on 1 page. Showing entries 1 - 23.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.167C>T VUS r.(?) p.(Pro56Leu)
?/. - c.181-76G>A - - p.(=)
?/. - c.181-76G>A - - p.(=)
-?/. - c.243A>G likely benign r.(?) p.(=)
-?/. 3 c.243A>G - r.(?) p.(=)
?/. - c.250G>A VUS r.(?) p.(Gly84Ser)
-?/. - c.313G>A likely benign r.(?) p.(Glu105Lys)
-?/. - c.337G>A likely benign r.(?) p.(Val113Ile)
-/. 4 c.337G>A - r.(?) p.(Val113Ile)
?/. 6 c.484G>A - r.(?) p.(Val162Met)
-?/. - c.523G>A likely benign r.(?) p.(Val175Ile)
+?/. - c.559C>T likely pathogenic r.(?) p.(Arg187*)
?/. - c.575C>T VUS r.(?) p.(Pro192Leu)
?/. 6 c.575C>T - r.(?) p.(Pro192Leu)
-?/. - c.731A>C likely benign r.(?) p.(Lys244Thr)
?/. - c.*995T>C - - p.(=)
?/. - c.*995T>C - - p.(=)
?/. - c.*1059C>G - - p.(=)
?/. - c.*1059C>G - - p.(=)
?/. - c.*1292C>T - - p.(=)
?/. - c.*1292C>T - - p.(=)
?/. - c.*1349A>G - - p.(=)
?/. - c.*1349A>G - - p.(=)
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