Full data view for gene CDKN1A

Information The variants shown are described using the NM_078467.2 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.11C>T r.(?) p.(Pro4Leu) Unknown - benign g.36651889C>T g.36684112C>T CDKN1A(NM_001220778.2):c.11C>T (p.P4L) - CDKN1A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.93C>A r.(?) p.(Ser31Arg) Unknown - benign g.36651971C>A g.36684194C>A CDKN1A(NM_001220778.2):c.93C>A (p.S31R) - CDKN1A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.189C>A r.(?) p.(Phe63Leu) Unknown - benign g.36652067C>A g.36684290C>A CDKN1A(NM_000389.5):c.189C>A (p.(Phe63Leu)), CDKN1A(NM_001220778.2):c.189C>A (p.F63L) - CDKN1A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.189C>A r.(?) p.(Phe63Leu) Unknown - likely benign g.36652067C>A - CDKN1A(NM_000389.5):c.189C>A (p.(Phe63Leu)), CDKN1A(NM_001220778.2):c.189C>A (p.F63L) - CDKN1A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.200G>T r.(?) p.(Arg67Leu) Unknown - pathogenic g.36652078G>T g.36684301G>T CDKN1A(NM_001220778.2):c.200G>T (p.R67L) - CDKN1A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.251G>A r.(?) p.(Arg84Gln) Unknown - likely benign g.36652129G>A g.36684352G>A CDKN1A(NM_001220778.2):c.251G>A (p.R84Q), CDKN1A(NM_001291549.1):c.353G>A (p.R118Q), CDKN1A(NM_001291549.3):c.353G>A (p.R118Q) - CDKN1A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.251G>A r.(?) p.(Arg84Gln) Unknown - likely benign g.36652129G>A g.36684352G>A CDKN1A(NM_001220778.2):c.251G>A (p.R84Q), CDKN1A(NM_001291549.1):c.353G>A (p.R118Q), CDKN1A(NM_001291549.3):c.353G>A (p.R118Q) - CDKN1A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.251G>A r.(?) p.(Arg84Gln) Unknown - benign g.36652129G>A g.36684352G>A CDKN1A(NM_001220778.2):c.251G>A (p.R84Q), CDKN1A(NM_001291549.1):c.353G>A (p.R118Q), CDKN1A(NM_001291549.3):c.353G>A (p.R118Q) - CDKN1A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.251G>A r.(?) p.(Arg84Gln) Unknown - likely benign g.36652129G>A g.36684352G>A CDKN1A(NM_001220778.2):c.251G>A (p.R84Q), CDKN1A(NM_001291549.1):c.353G>A (p.R118Q), CDKN1A(NM_001291549.3):c.353G>A (p.R118Q) - CDKN1A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.251G>A r.(?) p.(Arg84Gln) Unknown - benign g.36652129G>A - CDKN1A(NM_001220778.2):c.251G>A (p.R84Q), CDKN1A(NM_001291549.1):c.353G>A (p.R118Q), CDKN1A(NM_001291549.3):c.353G>A (p.R118Q) - CDKN1A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.273A>T r.(?) p.(Gly91=) Unknown - likely benign g.36652151A>T g.36684374A>T CDKN1A(NM_000389.4):c.273A>T (p.(=)), CDKN1A(NM_001291549.3):c.375A>T (p.G125=) - CDKN1A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.273A>T r.(?) p.(Gly91=) Unknown - likely benign g.36652151A>T g.36684374A>T CDKN1A(NM_000389.4):c.273A>T (p.(=)), CDKN1A(NM_001291549.3):c.375A>T (p.G125=) - CDKN1A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.350G>A r.(?) p.(Cys117Tyr) Unknown - VUS g.36652228G>A g.36684451G>A CDKN1A(NM_000389.4):c.350G>A (p.(Cys117Tyr)), CDKN1A(NM_001291549.1):c.452G>A (p.C151Y), CDKN1A(NM_001291549.3):c.452G>A (p.C151Y), CDKN1A(NM_0784...) - CDKN1A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.350G>A r.(?) p.(Cys117Tyr) Unknown - VUS g.36652228G>A g.36684451G>A CDKN1A(NM_000389.4):c.350G>A (p.(Cys117Tyr)), CDKN1A(NM_001291549.1):c.452G>A (p.C151Y), CDKN1A(NM_001291549.3):c.452G>A (p.C151Y), CDKN1A(NM_0784...) - CDKN1A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.350G>A r.(?) p.(Cys117Tyr) Unknown - VUS g.36652228G>A - CDKN1A(NM_000389.4):c.350G>A (p.(Cys117Tyr)), CDKN1A(NM_001291549.1):c.452G>A (p.C151Y), CDKN1A(NM_001291549.3):c.452G>A (p.C151Y), CDKN1A(NM_0784...) - CDKN1A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.350G>A r.(?) p.(Cys117Tyr) Unknown - likely benign g.36652228G>A - CDKN1A(NM_000389.4):c.350G>A (p.(Cys117Tyr)), CDKN1A(NM_001291549.1):c.452G>A (p.C151Y), CDKN1A(NM_001291549.3):c.452G>A (p.C151Y), CDKN1A(NM_0784...) - CDKN1A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.350G>A r.(?) p.(Cys117Tyr) Unknown - VUS g.36652228G>A - CDKN1A(NM_000389.4):c.350G>A (p.(Cys117Tyr)), CDKN1A(NM_001291549.1):c.452G>A (p.C151Y), CDKN1A(NM_001291549.3):c.452G>A (p.C151Y), CDKN1A(NM_0784...) - CDKN1A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.427C>T r.(?) p.(Arg143Trp) Unknown - VUS g.36652305C>T - CDKN1A(NM_078467.3):c.427C>T (p.R143W) - CDKN1A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.445+16C>G r.(=) p.(=) Unknown - benign g.36652339C>G g.36684562C>G CDKN1A(NM_001220778.2):c.445+16C>G - CDKN1A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.447T>C r.(?) p.(Asp149=) Unknown - likely benign g.36653529T>C g.36685752T>C CDKN1A(NM_001291549.1):c.549T>C (p.D183=) - CDKN1A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.467G>A r.(?) p.(Arg156Gln) Unknown - VUS g.36653549G>A - CDKN1A(NM_078467.3):c.467G>A (p.R156Q) - CDKN1A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*20C>T r.(=) p.(=) Unknown - benign g.36653597C>T g.36685820C>T CDKN1A(NM_001220778.2):c.*20C>T - CDKN1A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*33G>A r.(=) p.(=) Unknown - benign g.36653610G>A g.36685833G>A CDKN1A(NM_001220778.2):c.*33G>A - CDKN1A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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