All variants in the CDKN1C gene

Information The variants shown are described using the NM_000076.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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     
?/? 1 c.618_629del r.(?) p.(Ala213_Pro216del) - - VUS g.2906108_2906119del g.2884878_2884889del PAPA 206-209 del - CDKN1C_000048 - PubMed: Tokino 1996 - - Not applicable - 1/22 chromosomes - - - Johan den Dunnen
-/. - c.618_629del r.(?) p.(Ala213_Pro216del) - - benign g.2906108_2906119del g.2884878_2884889del CDKN1C(NM_000076.2):c.618_629del (p.(Ala213_Pro216del)), CDKN1C(NM_000076.2):c.618_629delGGCCCCGGCCCC (p.A213_P216del) - CDKN1C_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.618_629del r.(?) p.(Ala213_Pro216del) - - benign g.2906108_2906119del g.2884878_2884889del CDKN1C(NM_000076.2):c.618_629del (p.(Ala213_Pro216del)), CDKN1C(NM_000076.2):c.618_629delGGCCCCGGCCCC (p.A213_P216del) - CDKN1C_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.618_629del r.(?) p.(Ala213_Pro216del) - - likely benign g.2906108_2906119del g.2884878_2884889del CDKN1C(NM_000076.2):c.618_629del (p.(Ala213_Pro216del)), CDKN1C(NM_000076.2):c.618_629delGGCCCCGGCCCC (p.A213_P216del) - CDKN1C_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.618_629del r.(?) p.(Ala213_Pro216del) - - likely benign g.2906108_2906119del - CDKN1C(NM_000076.2):c.618_629del (p.(Ala213_Pro216del)), CDKN1C(NM_000076.2):c.618_629delGGCCCCGGCCCC (p.A213_P216del) - CDKN1C_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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