Unique variants in gene PPIP5K2

Information The variants shown are described using the NM_015216.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Reported     

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     
+/. 1 - c.685C>T pathogenic r.(?) p.(Arg229*) g.102483677C>T - PPIP5K2(NM_001281471.2):c.685C>T (p.R229*) - PPIP5K2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.3431C>T VUS r.(?) p.(Ser1144Phe) g.102530601C>T - PPIP5K2(NM_001281471.2):c.3599C>T (p.S1200F) - PPIP5K2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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