Unique variants in gene CDKN1C

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

27 entries on 1 page. Showing entries 1 - 27.
Legend  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     
?/? 1 - c.-36C>T r.(=) p.(=) g.2906755G>A - CDKN1C_000027 rs780580834 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.15C>T r.(=) p.(=) g.2906705G>A - CDKN1C_000023 rs878853624 - Germline - - - - Despoina Kalfakakou
?/? 4 - c.17T>C r.(?) p.(Leu6Pro) g.2906703A>G - CDKN1C_000005 rs201715947 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.19C>T r.(?) p.(Arg7Cys) g.2906701G>A - CDKN1C_000004 rs374634184 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.171C>T r.(=) p.(=) g.2906549G>A - CDKN1C_000026 rs1554938190 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.346A>G r.(?) p.(Ser116Gly) g.2906374T>C - CDKN1C_000010 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.353C>T r.(?) p.(Pro118Leu) g.2906367G>A - CDKN1C_000007 rs771731330 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.456G>C r.(=) p.(=) g.2906264C>G - CDKN1C_000015 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.494_499del r.(?) p.(Val165_Ala166del) g.2906221_2906226del - CDKN1C_000011 rs878853627 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.518T>G r.(?) p.(Val173Gly) g.2906202A>C - CDKN1C_000022 - - Germline - - - - Despoina Kalfakakou
?/? 4 - c.531_532insGCGGTC r.(?) p.(Ala176_Val177dup) g.2906188_2906189insGACCGC - CDKN1C_000003 - - Germline - - - - Despoina Kalfakakou
./. 1 - c.543_554del r.(?) p.(Ala191_Pro194del) g.2906166_2906177del - CDKN1C_000028 - - - - - - - Stevi Xera
./. 1 - c.575C>T r.(?) p.(Pro192Leu) g.2906145G>A - CDKN1C_000029 - - - - - - - Stevi Xera
-?/-? 1 - c.612G>A r.(=) p.(=) g.2906108C>T - CDKN1C_000021 rs794726872 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.628C>G r.(?) p.(Pro210Ala) g.2906092G>C - CDKN1C_000017 - - Germline - - - - Despoina Kalfakakou
-/- 4 - c.708G>A r.(=) p.(=) g.2906012C>T - CDKN1C_000006 rs3741341 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.820+20G>C r.(=) p.(=) g.2905880C>G - CDKN1C_000020 - - Germline - - - - Despoina Kalfakakou
-?/-?, ./. 2 - c.888C>T r.(=) p.(=) g.2905297G>A - CDKN1C_000019 rs779172459 - Germline - - - - Despoina Kalfakakou, Stevi Xera
?/? 4 - c.*5+18_*5+19insC r.(=) p.(=) g.2905210_2905211insG - CDKN1C_000008 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.*5+19_*5+20insA r.(=) p.(=) g.2905209_2905210insT - CDKN1C_000018 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.*5+20G>C r.(=) p.(=) g.2905209C>G - CDKN1C_000013 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.*5+20_*5+21insC r.(=) p.(=) g.2905208_2905209insG - CDKN1C_000012 - - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.*5+24_*5+25insG r.(=) p.(=) g.2905204_2905205insC - CDKN1C_000024 rs34289096 - Germline - - - - Despoina Kalfakakou
-?/-? 7 - c.*5+24_*5+25insGG r.(=) p.(=) g.2905204_2905205insCC - CDKN1C_000002 rs34289096 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.*5+25C>G r.(=) p.(=) g.2905204G>C - CDKN1C_000001 - - Germline - - - - Despoina Kalfakakou
-?/-? 3 - c.*5+34C>T r.(=) p.(=) g.2905195G>A - CDKN1C_000025 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.*6-40G>A r.(=) p.(=) g.2905185C>T - CDKN1C_000014 - - Germline - - - - Despoina Kalfakakou
Legend