Unique variants in gene SDHAF2

Information The variants shown are described using the NM_017841.2 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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.-28C>A r.(=) p.(=) g.61197591C>A - SDHAF2_000009 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.-23G>A r.spl? p.? g.61197596G>A - SDHAF2_000006 - - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.36+17T>C r.(=) p.(=) g.61197671T>C - SDHAF2_000007 rs201389647 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.36+26C>T r.(=) p.(=) g.61197680C>T - SDHAF2_000012 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.37-5T>C r.spl? p.? g.61205092T>C - SDHAF2_000013 - - Germline - - - - Despoina Kalfakakou
-?/-? 3 - c.97C>T r.(?) p.(Arg33Cys) g.61205157C>T - SDHAF2_000004 rs144867876 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.139A>G r.(?) p.(Met47Val) g.61205199A>G - SDHAF2_000002 rs111402137 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.145_147del r.(?) p.(Glu49del) g.61205205_61205207del - SDHAF2_000005 rs749431351 - Germline - - - - Despoina Kalfakakou
./. 1 - c.273A>G r.(=) p.(=) g.61205488A>G - SDHAF2_000014 - - - - - - - Stevi Xera
?/? 1 - c.370+43T>C r.(=) p.(=) g.61205628T>C - SDHAF2_000010 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.371-46T>C r.(=) p.(=) g.61213367T>C - SDHAF2_000008 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.371-21C>G r.(=) p.(=) g.61213392C>G - SDHAF2_000001 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.371-7C>T r.(=) p.(=) g.61213406C>T - SDHAF2_000011 - - Germline - - - - Despoina Kalfakakou
-?/-? 11 - c.*12C>T r.(=) p.(=) g.61213555C>T - SDHAF2_000003 rs113652589 - Germline - - - - Despoina Kalfakakou
Legend