All variants in the PRKACB gene

Information The variants shown are described using the NM_182948.2 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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.188-3361del r.(=) p.(=) - likely benign g.84641499del - PRKACB(NM_001242857.3):c.67+9del - PRKACB_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.188-10A>G r.(=) p.(=) - likely benign g.84644850A>G - PRKACB(NM_182948.4):c.188-10A>G - PRKACB_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.250-533T>G r.(=) p.(=) - likely benign g.84647350T>G - PRKACB(NM_001242862.3):c.8T>G (p.(Leu3Arg)) - PRKACB_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.250-531C>G r.(=) p.(=) - likely benign g.84647352C>G - PRKACB(NM_001242862.3):c.10C>G (p.(Leu4Val)) - PRKACB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.250-521C>A r.(=) p.(=) - likely benign g.84647362C>A - PRKACB(NM_001242862.3):c.20C>A (p.(Ser7Tyr)) - PRKACB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.250-515G>T r.(=) p.(=) - likely benign g.84647368G>T - PRKACB(NM_001242862.3):c.26G>T (p.(Ser9Ile)) - PRKACB_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.250-506A>C r.(=) p.(=) - VUS g.84647377A>C - PRKACB(NM_001242862.3):c.35A>C (p.(Lys12Thr)) - PRKACB_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.250-472G>A r.(=) p.(=) - likely benign g.84647411G>A - PRKACB(NM_001242862.3):c.69G>A (p.(Gln23=)) - PRKACB_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.250-471G>A r.(=) p.(=) - likely benign g.84647412G>A - PRKACB(NM_001242862.3):c.69+1G>A - PRKACB_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.302C>T r.(?) p.(Ser101Leu) - pathogenic (dominant) g.84647935C>T g.84182252C>T NM_002731.3:c.161C>T - PRKACB_000001 de novo, 39/122 reads Journal: Palencia-Campos 2020 - - De novo - - - - - Johan den Dunnen
+/. - c.403C>A r.(?) p.(His135Asn) - pathogenic (dominant) g.84649744C>A g.84184061C>A NM_002731.3:c.262C>A - PRKACB_000002 de novo, 4/13 reads Journal: Palencia-Campos 2020 - - De novo - - - - - Johan den Dunnen
+/. - c.403C>A r.(?) p.(His135Asn) - pathogenic g.84649744C>A - - - PRKACB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.404A>G r.(?) p.(His135Arg) - pathogenic (dominant) g.84649745A>G g.84184062A>G NM_002731.3:c.263A>G - PRKACB_000003 de novo, 20/37 reads Journal: Palencia-Campos 2020 - - De novo - - - - - Johan den Dunnen
-?/. - c.478-5C>T r.spl? p.? - likely benign g.84650778C>T - PRKACB(NM_182948.4):c.478-5C>T - PRKACB_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.490T>G r.(?) p.(Leu164Val) - likely benign g.84650795T>G - PRKACB(NM_182948.2):c.490T>G (p.(Leu164Val)) - PRKACB_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.844G>C r.(?) p.(Gly282Arg) - pathogenic (dominant) g.84668426G>C g.84202743G>C NM_002731.3:c.703G>C - PRKACB_000004 de novo, 102/239 reads Journal: Palencia-Campos 2020 - - De novo - - - - - Johan den Dunnen
?/. - c.906+1674C>T r.(=) p.(=) - VUS g.84670162C>T - PRKACB(NM_001300915.2):c.784C>T (p.(Gln262*)), PRKACB(NM_182948.4):c.906+1674C>T - PRKACB_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.906+1674C>T r.(=) p.(=) - likely benign g.84670162C>T - PRKACB(NM_001300915.2):c.784C>T (p.(Gln262*)), PRKACB(NM_182948.4):c.906+1674C>T - PRKACB_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.