Unique variants in gene CCND2

Information The variants shown are described using the NM_001759.3 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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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.406C>G VUS r.(?) p.(Leu136Val) g.4385381C>G - CCND2(NM_001759.3):c.406C>G (p.L136V) - CCND2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.455C>A VUS r.(?) p.(Ala152Glu) g.4387969C>A - CCND2(NM_001759.3):c.455C>A (p.A152E) - CCND2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.606C>T likely benign r.(?) p.(=) g.4398042C>T - CCND2(NM_001759.3):c.606C>T (p.I202=) - CCND2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.720+7G>A likely benign r.(=) p.(=) g.4398163G>A - CCND2(NM_001759.3):c.720+7G>A - CCND2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.812C>A pathogenic r.(?) p.(Ser271*) g.4409117C>A - CCND2(NM_001759.3):c.812C>A (p.S271*) - CCND2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.850G>A VUS r.(?) p.(Val284Met) g.4409155G>A - CCND2(NM_001759.3):c.850G>A (p.(Val284Met)) - CCND2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.860T>G VUS r.(?) p.(Ile287Ser) g.4409165T>G - CCND2(NM_001759.3):c.860T>G (p.I287S) - CCND2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
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