All transcript variants in gene CALM3

Information The variants shown are described using the NM_005184.2 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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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.-466T>C r.(?) p.(=) - likely benign g.47104226T>C g.46600969T>C PPP5D1(NM_001205281.1):c.1A>G (p.(Met1?)) - CALM3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.-21C>T r.(?) p.(=) - benign g.47104671C>T g.46601414C>T CALM3(NM_005184.3):c.-21C>T - CALM3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.-14C>A r.(?) p.(=) - benign g.47104678C>A g.46601421C>A CALM3(NM_005184.3):c.-14C>A - CALM3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.179-14del r.(=) p.(=) - benign g.47111725del g.46608468del CALM3(NM_005184.3):c.179-14delT - CALM3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.179-14del r.(=) p.(=) - benign g.47111725del g.46608468del CALM3(NM_005184.3):c.179-14delT - CALM3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.183C>T r.(?) p.(Asn61=) - benign g.47111743C>T g.46608486C>T CALM3(NM_005184.3):c.183C>T (p.N61=) - CALM3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.183C>T r.(?) p.(Asn61=) - likely benign g.47111743C>T g.46608486C>T CALM3(NM_005184.3):c.183C>T (p.N61=) - CALM3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.183C>T r.(?) p.(Asn61=) - benign g.47111743C>T - CALM3(NM_005184.3):c.183C>T (p.N61=) - CALM3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.201G>A r.(?) p.(Pro67=) - benign g.47111761G>A g.46608504G>A CALM3(NM_005184.3):c.201G>A (p.P67=) - CALM3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.287A>G r.(?) p.(Asp96Gly) - VUS g.47112104A>G g.46608847A>G CALM3(NM_005184.3):c.287A>G (p.D96G) - CALM3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.309C>T r.(?) p.(Ala103=) - likely benign g.47112126C>T g.46608869C>T - - CALM3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.390C>T r.(?) p.(Asp130=) - benign g.47112207C>T g.46608950C>T CALM3(NM_005184.3):c.390C>T (p.D130=) - CALM3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.402T>A r.(?) p.(Asp134Glu) - VUS g.47112219T>A g.46608962T>A CALM3(NM_005184.3):c.402T>A (p.D134E) - CALM3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.*9del r.(?) p.(=) - benign g.47112419del g.46609162del CALM3(NM_005184.3):c.*9delC - CALM3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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