All transcript variants in gene PNPLA4

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
-/. 4 c.337G>A - r.(?) p.(Val113Ile) g.7889828C>T g.7921787C>T - - PNPLA4_000004 - - - - Germline - - - 0 - Muhammad Umair
-?/. - c.337G>A likely benign r.(?) p.(Val113Ile) g.7889828C>T - PNPLA4(NM_001142389.1):c.337G>A (p.(Val113Ile), p.(Val26Ile)) - PNPLA4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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