All variants in the PRKCSH gene

Information The variants shown are described using the NM_001001329.1 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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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.-11975C>T r.(?) p.(=) - likely benign g.11534630C>T - CCDC151(NM_145045.4):c.1032G>A (p.E344=) - CCDC151_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-9047G>A r.(?) p.(=) - VUS g.11537558G>A - CCDC151(NM_145045.4):c.659C>T (p.A220V) - CCDC151_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-5066G>C r.(?) p.(=) - likely benign g.11541539G>C g.11430719G>C CCDC151(NM_145045.4):c.424C>G (p.(Leu142Val)) - CCDC151_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-4774C>T r.(?) p.(=) - likely benign g.11541831C>T - CCDC151(NM_145045.4):c.254G>A (p.R85Q) - CCDC151_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-940A>G r.(?) p.(=) - likely benign g.11545665A>G g.11434844A>G CCDC151(NM_145045.4):c.173T>C (p.(Phe58Ser)) - CCDC151_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.188A>C r.(?) p.(Asp63Ala) - VUS g.11547318A>C - - - CCDC151_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.292+1G>C r.spl? p.? - pathogenic g.11548793G>C g.11437972G>C - - PRKCSH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.351-5C>T r.spl? p.? - benign g.11552050C>T g.11441235C>T PRKCSH(NM_001001329.1):c.351-5C>T (p.?) - PRKCSH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.351-5C>T r.spl? p.? - likely benign g.11552050C>T g.11441235C>T PRKCSH(NM_001001329.1):c.351-5C>T (p.?) - PRKCSH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.416G>A r.(?) p.(Arg139His) - VUS g.11552120G>A - PRKCSH(NM_001289103.1):c.416G>A (p.R139H) - PRKCSH_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.430_432delinsAATAAGG r.(?) p.(Leu144AsnfsTer4) - pathogenic g.11552134_11552136delinsAATAAGG g.11441319_11441321delinsAATAAGG - - PRKCSH_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.549T>C r.(?) p.(Ala183=) - benign g.11553281T>C g.11442466T>C - - PRKCSH_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.628G>A r.(?) p.(Glu210Lys) - likely benign g.11556233G>A - PRKCSH(NM_001289103.1):c.628G>A (p.E210K) - PRKCSH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.753G>A r.(?) p.(Ala251=) - likely benign g.11557156G>A g.11446341G>A PRKCSH(NM_001289103.1):c.753G>A (p.A251=) - ELAVL3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.762+2T>C r.spl? p.? - pathogenic g.11557167T>C g.11446352T>C - - ELAVL3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.807C>T r.(?) p.(Tyr269=) - benign g.11557933C>T - PRKCSH(NM_002743.3):c.807C>T (p.Y269=) - ELAVL3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.812G>A r.(?) p.(Arg271His) - likely benign g.11557938G>A g.11447123G>A PRKCSH(NM_001289103.1):c.812G>A (p.R271H) - ELAVL3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.823G>A r.(?) p.(Ala275Thr) - likely benign g.11557949G>A - PRKCSH(NM_001289103.1):c.823G>A (p.A275T) - ELAVL3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.850-14T>C r.(=) p.(=) - benign g.11558240T>C g.11447425T>C PRKCSH(NM_001289103.1):c.850-14T>C, PRKCSH(NM_002743.3):c.850-14T>C - PRKCSH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.850-14T>C r.(=) p.(=) - benign g.11558240T>C g.11447425T>C PRKCSH(NM_001289103.1):c.850-14T>C, PRKCSH(NM_002743.3):c.850-14T>C - PRKCSH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.850-14T>C r.(=) p.(=) - benign g.11558240T>C g.11447425T>C PRKCSH(NM_001289103.1):c.850-14T>C, PRKCSH(NM_002743.3):c.850-14T>C - PRKCSH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.963_968del r.(?) p.(Glu324_Glu325del) - benign g.11558367_11558372del g.11447552_11447557del PRKCSH(NM_002743.3):c.963_968delGGAGGA (p.E324_E325del) - PRKCSH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.966_968del r.(?) p.(Glu325del) - likely benign g.11558370_11558372del g.11447555_11447557del PRKCSH(NM_001001329.1):c.940_942del (p.(Glu315del)), PRKCSH(NM_001289103.1):c.966_968delGGA (p.E325del), PRKCSH(NM_001289103.2):c.966_968delGGA (p...) - PRKCSH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.966_968del r.(?) p.(Glu325del) - VUS g.11558370_11558372del g.11447555_11447557del PRKCSH(NM_001001329.1):c.940_942del (p.(Glu315del)), PRKCSH(NM_001289103.1):c.966_968delGGA (p.E325del), PRKCSH(NM_001289103.2):c.966_968delGGA (p...) - PRKCSH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.966_968del r.(?) p.(Glu325del) - benign g.11558370_11558372del g.11447555_11447557del PRKCSH(NM_001001329.1):c.940_942del (p.(Glu315del)), PRKCSH(NM_001289103.1):c.966_968delGGA (p.E325del), PRKCSH(NM_001289103.2):c.966_968delGGA (p...) - PRKCSH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.966_968del r.(?) p.(Glu325del) - benign g.11558370_11558372del g.11447555_11447557del PRKCSH(NM_001001329.1):c.940_942del (p.(Glu315del)), PRKCSH(NM_001289103.1):c.966_968delGGA (p.E325del), PRKCSH(NM_001289103.2):c.966_968delGGA (p...) - PRKCSH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.966_968dup r.(?) p.(Glu325dup) - benign g.11558370_11558372dup g.11447555_11447557dup PRKCSH(NM_001289103.1):c.966_968dupGGA (p.E325dup) - ELAVL3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.976G>A r.(?) p.(Ala326Thr) - likely benign g.11558380G>A g.11447565G>A PRKCSH(NM_001289103.1):c.976G>A (p.A326T) - PRKCSH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.976G>A r.(?) p.(Ala326Thr) - likely benign g.11558380G>A g.11447565G>A PRKCSH(NM_001289103.1):c.976G>A (p.A326T) - PRKCSH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1009G>A r.(?) p.(Val337Met) - likely benign g.11558413G>A - PRKCSH(NM_001289103.1):c.1009G>A (p.V337M) - ELAVL3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1029+9T>C r.(=) p.(=) - likely benign g.11558442T>C g.11447627T>C PRKCSH(NM_001289103.1):c.1029+9T>C - ELAVL3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1256+14A>G r.(=) p.(=) - benign g.11559458A>G g.11448643A>G - - ELAVL3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1329T>C r.(?) p.(Leu443=) - benign g.11559801T>C g.11448986T>C - - ELAVL3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1332-2A>G r.spl? p.? - pathogenic g.11559889A>G g.11449074A>G - - PRKCSH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1348A>G r.(?) p.(Ile450Val) - likely benign g.11559907A>G g.11449092A>G - - ELAVL3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1348A>G r.(?) p.(Ile450Val) - likely benign g.11559907A>G g.11449092A>G - - ELAVL3_000009 62 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34351170 Germline - 62/2788 individuals - 0 - Mohammed Faruq
-?/. - c.1348A>G r.(?) p.(Ile450Val) - likely benign g.11559907A>G g.11449092A>G - - ELAVL3_000009 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34351170 Germline - 1/2788 individuals - 0 - Mohammed Faruq
-/. - c.*185T>C r.(=) p.(=) - benign g.11561629T>C - - - ELAVL3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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