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     
?/. - 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
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