All variants in the PPP1CB gene

Information The variants shown are described using the NM_002709.2 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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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.-103G>T r.(?) p.(=) - likely benign g.28974888G>T g.28752022G>T - - PPP1CB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.52+3G>A r.spl? p.? - VUS g.28975045G>A - PPP1CB(NM_002709.3):c.52+3G>A - PPP1CB_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.65G>A r.(?) p.(Arg22His) - VUS g.28999729G>A g.28776863G>A PPP1CB(NM_002709.3):c.65G>A (p.R22H) - PPP1CB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.146C>G r.(?) p.(Pro49Arg) - pathogenic g.28999810C>G g.28776944C>G PPP1CB(NM_002709.2):c.146C>G (p.(Pro49Arg)), PPP1CB(NM_002709.3):c.146C>G (p.P49R), PPP1CB(NM_206876.1):c.146C>G (p.P49R) - PPP1CB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. - c.146C>G r.(?) p.(Pro49Arg) - pathogenic g.28999810C>G g.28776944C>G PPP1CB(NM_002709.2):c.146C>G (p.(Pro49Arg)), PPP1CB(NM_002709.3):c.146C>G (p.P49R), PPP1CB(NM_206876.1):c.146C>G (p.P49R) - PPP1CB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.146C>G r.(?) p.(Pro49Arg) - pathogenic g.28999810C>G g.28776944C>G PPP1CB(NM_002709.2):c.146C>G (p.(Pro49Arg)), PPP1CB(NM_002709.3):c.146C>G (p.P49R), PPP1CB(NM_206876.1):c.146C>G (p.P49R) - PPP1CB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.146C>G r.(?) p.(Pro49Arg) - pathogenic g.28999810C>G g.28776944C>G PPP1CB(NM_002709.2):c.146C>G (p.(Pro49Arg)), PPP1CB(NM_002709.3):c.146C>G (p.P49R), PPP1CB(NM_206876.1):c.146C>G (p.P49R) - PPP1CB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.201A>G r.(?) p.(Gln67=) - benign g.29001691A>G g.28778825A>G - - PPP1CB_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.548A>C r.(?) p.(Glu183Ala) - VUS g.29006800A>C g.28783934A>C - - PPP1CB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.548A>C r.(?) p.(Glu183Ala) - pathogenic (dominant) g.29006800A>C g.28783934A>C - - PPP1CB_000004 - PubMed: Hong 2020 - - De novo - - - 0 - Johan den Dunnen
+?/. - c.779G>A r.(?) p.(Arg260Gln) - likely pathogenic g.29016763G>A - - - PPP1CB_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.820G>A r.(?) p.(Glu274Lys) - pathogenic g.29016804G>A - - - PPP1CB_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.909dup r.(?) p.(Tyr304Ilefs*19) - pathogenic (dominant) g.29022094dup g.28799228dup - - PPP1CB_000009 - PubMed: Hamdan 2015 - - De novo - - - 0 - Johan den Dunnen
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