All transcript variants in gene PNPLA4

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

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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.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 - - - 0 - VKGL-NL
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