Unique variants in gene CDKN2A

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

27 entries on 1 page. Showing entries 1 - 27.
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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.-48G>C r.(=) p.(=) g.21974874C>G - CDKN2A_000028 rs746294267 - Germline - - - - Despoina Kalfakakou
-?/-? 10 - c.-33G>C r.(=) p.(=) g.21974859C>G - CDKN2A_000013 rs531597737 - Germline - - - - Despoina Kalfakakou
-/- 2 - c.-25C>T r.(=) p.(=) g.21974851G>A - CDKN2A_000025 rs144481587 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.-7G>A r.(=) p.(=) g.21974833C>T - CDKN2A_000008 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.-6A>G r.(=) p.(=) g.21974832T>C - CDKN2A_000007 - - Germline - - - - Despoina Kalfakakou
-/- 1 - c.69T>G r.(=) p.(=) g.21974758A>C - CDKN2A_000027 rs766772030 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.71G>C r.(?) p.(Arg24Pro) g.21974756C>G Jones et al (2007)   CDKN2A_000006 rs104894097 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.107C>T r.(?) p.(Ala36Val) g.21974720G>A - CDKN2A_000001 rs200382984 - Germline - - - - Despoina Kalfakakou
-?/-? 4 - c.150+37G>C r.(=) p.(=) g.21974640C>G - CDKN2A_000016 rs45456595 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.151-18T>C r.(=) p.(=) g.21971225A>G - CDKN2A_000015 rs779541481 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.151-13T>C r.(=) p.(=) g.21971220A>G - CDKN2A_000014 rs757122222 - Germline - - - - Despoina Kalfakakou
?/? 4 - c.170C>A r.(?) p.(Ala57Asp) g.21971188G>T - CDKN2A_000005 rs372266620 - Germline - - - - Despoina Kalfakakou
-/- 1 - c.174A>C r.(=) p.(=) g.21971184T>G - CDKN2A_000012 rs201208890 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.194T>C r.(?) p.(Leu65Pro) g.21971164A>G - CDKN2A_000004 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.198C>T r.(=) p.(=) g.21971160G>A - CDKN2A_000003 rs374984975 - Germline - - - - Despoina Kalfakakou
./. 13 - c.221A>C r.(?) p.(Asp74Ala) g.21971137T>G - CDKN2A_000029 - - - - - - - Stevi Xera
-?/-? 1 - c.234C>T r.(=) p.(=) g.21971124G>A - CDKN2A_000018 rs1587331920 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.321C>G r.(=) p.(=) g.21971037G>C - CDKN2A_000002 rs772527888 - Germline - - - - Despoina Kalfakakou
+/+ 2 - c.330G>A r.(?) p.(Trp110*) g.21971028C>T - CDKN2A_000011 rs121913389 - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.365G>C r.(?) p.(Gly122Ala) g.21970993C>G - CDKN2A_000019 rs373291490 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.383G>T r.(?) p.(Arg128Leu) g.21970975C>A - CDKN2A_000024 rs971657556 - Germline - - - - Despoina Kalfakakou
-/- 1 - c.384G>A r.(=) p.(=) g.21970974C>T - CDKN2A_000021 rs199901898 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.416G>T r.(?) p.(Gly139Val) g.21970942C>A - CDKN2A_000020 rs149937815 - Germline - - - - Despoina Kalfakakou
./. 13 - c.442G>A r.(?) p.(Ala148Thr) g.21970916C>T - CDKN2A_000030 rs3731249 - - - - - - Stevi Xera
?/? 2 - c.457G>C r.(?) p.(Asp153His) g.21970901C>G - CDKN2A_000026 rs45476696 - Germline - - - - Despoina Kalfakakou
-/- 1 - c.*6C>G r.(=) p.(=) g.21968222G>C - CDKN2A_000022 rs375628411 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.*8A>T r.(=) p.(=) g.21968220T>A - CDKN2A_000010 rs763795863 - Germline - - - - Despoina Kalfakakou
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