Unique variants in gene CALM3

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

11 entries on 1 page. Showing entries 1 - 11.
Legend  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-?/. 1 - c.-466T>C likely benign r.(?) p.(=) g.47104226T>C - PPP5D1(NM_001205281.1):c.1A>G (p.(Met1?)) - CALM3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.-21C>T benign r.(?) p.(=) g.47104671C>T - CALM3(NM_005184.3):c.-21C>T - CALM3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.-14C>A benign r.(?) p.(=) g.47104678C>A - CALM3(NM_005184.3):c.-14C>A - CALM3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.179-14del benign r.(=) p.(=) g.47111725del - CALM3(NM_005184.3):c.179-14delT - CALM3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
-/., -?/. 2 - c.183C>T benign, likely benign r.(?) p.(=) g.47111743C>T - CALM3(NM_005184.3):c.183C>T (p.N61=) - CALM3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Nijmegen
-/. 1 - c.201G>A benign r.(?) p.(=) g.47111761G>A - CALM3(NM_005184.3):c.201G>A (p.P67=) - CALM3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.287A>G VUS r.(?) p.(Asp96Gly) g.47112104A>G - CALM3(NM_005184.3):c.287A>G (p.D96G) - CALM3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.309C>T likely benign r.(?) p.(=) g.47112126C>T - - - CALM3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.390C>T benign r.(?) p.(=) g.47112207C>T - CALM3(NM_005184.3):c.390C>T (p.D130=) - CALM3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.402T>A VUS r.(?) p.(Asp134Glu) g.47112219T>A - CALM3(NM_005184.3):c.402T>A (p.D134E) - CALM3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*9del benign r.(?) p.(=) g.47112419del - CALM3(NM_005184.3):c.*9delC - CALM3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
Legend