All variants in the PCK2 gene

Information The variants shown are described using the NM_001018073.1 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

Effect     

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     
+/. - c.-13110del r.(?) p.(=) - pathogenic g.24550505del g.24081296del NRL(NM_006177.4):c.654delC (p.C219Vfs*4) - NRL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.-13110del r.(?) p.(=) - pathogenic g.24550505del g.24081296del NRL(NM_006177.4):c.654delC (p.C219Vfs*4) - NRL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.-13110del r.(?) p.(=) - likely pathogenic g.24550505del g.24081296del NRL(NM_006177.4):c.654delC (p.C219Vfs*4) - NRL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
Legend   How to query