Unique variants in gene DDB2

Information The variants shown are described using the NM_000107.2 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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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     
?/? 2 - c.-51C>T r.(=) p.(=) g.47236637C>T - DDB2_000008 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.-36G>A r.(=) p.(=) g.47236652G>A - DDB2_000028 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.-31G>C r.(=) p.(=) g.47236657G>C - DDB2_000013 rs375840702 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.-10G>A r.(=) p.(=) g.47236678G>A - DDB2_000014 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.-2C>A r.(=) p.(=) g.47236686C>A - DDB2_000017 - - Germline - - - - Despoina Kalfakakou
./., ?/? 11 - c.59G>A r.(?) p.(Arg20Lys) g.47236746G>A - DDB2_000007 - - Germline - - - - Despoina Kalfakakou, Stevi Xera
-/- 6 - c.127+5T>G r.spl? p.? g.47236819T>G - DDB2_000001 rs199965459 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.128-19T>C r.(=) p.(=) g.47237868T>C - DDB2_000029 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.128-16C>T r.(=) p.(=) g.47237871C>T - DDB2_000012 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.192A>C r.(=) p.(=) g.47237951A>C - DDB2_000010 rs753467757 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.264+8A>G r.(=) p.(=) g.47238031A>G - DDB2_000018 rs374094218 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.377C>G r.(?) p.(Thr126Ser) g.47238521C>G - DDB2_000021 - - Germline - - - - Despoina Kalfakakou
./. 74 - c.378T>C r.(=) p.(=) g.47238522T>C - DDB2_000036 rs326212 - - - - - - Stevi Xera
?/? 2 - c.457-20T>G r.(=) p.(=) g.47254345T>G - DDB2_000016 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.571C>T r.(=) p.(=) g.47254479C>T - DDB2_000032 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.603-32C>T r.(=) p.(=) g.47256092C>T - DDB2_000033 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.641G>A r.(?) p.(Arg214Gln) g.47256162G>A - DDB2_000022 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.702+9T>C r.(=) p.(=) g.47256232T>C - DDB2_000006 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.702+12G>C r.(=) p.(=) g.47256235G>C - DDB2_000027 rs55847708 - Germline - - - - Despoina Kalfakakou
-/-, ./. 19 - c.738G>A r.(=) p.(=) g.47256343G>A - DDB2_000002 rs144266685 - Germline - - - - Despoina Kalfakakou, Stevi Xera
?/? 1 - c.880+9T>G r.(=) p.(=) g.47256494T>G - DDB2_000030 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.984G>A r.(=) p.(=) g.47256924G>A - DDB2_000023 rs138255134 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1023+24C>T r.(=) p.(=) g.47256987C>T - DDB2_000034 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.1023+25G>A r.(=) p.(=) g.47256988G>A - DDB2_000011 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1024-24A>G r.(=) p.(=) g.47259364A>G - DDB2_000019 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1024-19C>T r.(=) p.(=) g.47259369C>T - DDB2_000035 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1024-18G>A r.(=) p.(=) g.47259370G>A - DDB2_000020 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1024-8T>A r.(=) p.(=) g.47259380T>A - DDB2_000024 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.1034A>T r.(?) p.(His345Leu) g.47259398A>T - DDB2_000026 - - Germline - - - - Despoina Kalfakakou
-?/-? 5 - c.1053T>C r.(=) p.(=) g.47259417T>C - DDB2_000005 rs61741581 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.1098T>G r.(=) p.(=) g.47259462T>G - DDB2_000003 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1116C>T r.(=) p.(=) g.47259480C>T - DDB2_000031 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1219C>T r.(=) p.(=) g.47259719C>T - DDB2_000015 - - Germline - - - - Despoina Kalfakakou
-?/-? 9 - c.1228G>A r.(?) p.(Ala410Thr) g.47259728G>A - DDB2_000004 rs143049891 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1234+39A>C r.(=) p.(=) g.47259773A>C - DDB2_000025 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.*51G>A r.(=) p.(=) g.47260451G>A - DDB2_000009 - - Germline - - - - Despoina Kalfakakou
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