All variants in the CPZ gene

Information The variants shown are described using the NM_003652.3 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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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.89-1673C>T r.(=) p.(=) - likely benign g.8601177C>T - CPZ(NM_001014448.2):c.-586-3C>T - CPZ_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.322C>G r.(?) p.(Arg108Gly) - VUS g.8603083C>G g.8601356C>G CPZ(NM_001014447.2):c.355C>G (p.(Arg119Gly)) - CPZ_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. - c.916C>T r.(?) p.(Gln306Ter) - pathogenic g.8608506C>T g.8606779C>T CPZ(NM_001014448.2):c.538C>T (p.Q180*) - CPZ_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1165A>G r.(?) p.(Lys389Glu) - benign g.8609123A>G g.8607396A>G - - CPZ_000004 - PubMed: Khan 2019 - - Germline - - - 0 - Johan den Dunnen
?/. - c.1552C>T r.(?) p.(Arg518Cys) - VUS g.8620237C>T g.8618510C>T CPZ(NM_001014447.2):c.1585C>T (p.(Arg529Cys)) - CPZ_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1600C>G r.(?) p.(Pro534Ala) - likely benign g.8621018C>G - CPZ(NM_001014448.2):c.1222C>G (p.P408A) - CPZ_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1694G>A r.(?) p.(Arg565His) - likely pathogenic g.8621112G>A g.8619385G>A - - CPZ_000005 - PubMed: Khan 2019 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.1809G>A r.(?) p.(Thr603=) - likely benign g.8621227G>A - CPZ(NM_001014448.2):c.1431G>A (p.T477=) - CPZ_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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