Unique variants in gene SDHC

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

29 entries on 1 page. Showing entries 1 - 29.
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.-14G>C r.(=) p.(=) g.161284182G>C - SDHC_000010 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.20+6T>G r.(=) p.(=) g.161284221T>G - SDHC_000028 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.61C>G r.(?) p.(Gln21Glu) g.161293444C>G - SDHC_000009 rs1553261768 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.77+27T>A r.(=) p.(=) g.161293487T>A - SDHC_000002 - - Germline - - - - Despoina Kalfakakou
?/? 17 - c.77+28A>T r.(=) p.(=) g.161293488A>T - SDHC_000001 - - Germline - - - - Despoina Kalfakakou
?/? 5 - c.77+32del r.(=) p.(=) g.161293492del - SDHC_000011 rs141691113 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.77+46G>C r.(=) p.(=) g.161293506G>C - SDHC_000003 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.77+50G>C r.(=) p.(=) g.161293510G>C - SDHC_000004 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.78-19C>T r.(=) p.(=) g.161298167C>T - SDHC_000027 rs144770080 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.81T>C r.(=) p.(=) g.161298189T>C - SDHC_000025  rs876659297 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.114G>C r.(?) p.(Met38Ile) g.161298222G>C - SDHC_000022 rs868556406 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.180-34C>T r.(=) p.(=) g.161310350C>T - SDHC_000005 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.198G>A r.(=) p.(=) g.161310402G>A - SDHC_000020 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.241+23A>G r.(=) p.(=) g.161310468A>G - SDHC_000023 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.241+26C>T r.(=) p.(=) g.161310471C>T - SDHC_000021 - - Germline - - - - Despoina Kalfakakou
?/? 4 - c.242-5644C>T r.(=) p.(=) g.161326475C>T - SDHC_000018 rs942160050 - Germline - - - - Despoina Kalfakakou
./., ?/? 9 - c.242-5631C>A r.(=) p.(=) g.161326488C>A - SDHC_000019  rs778212096 - Germline - - - - Despoina Kalfakakou, Stevi Xera
./., ?/? 6 - c.242-5621A>G r.(=) p.(=) g.161326498A>G - SDHC_000012 - - Germline - - - - Despoina Kalfakakou, Stevi Xera
./., ?/? 12 - c.242-5599T>A r.(=) p.(=) g.161326520T>A - SDHC_000013 rs760678574 - Germline - - - - Despoina Kalfakakou, Stevi Xera
./., ?/? 13 - c.242-5588T>C r.(=) p.(=) g.161326531T>C - SDHC_000014 rs11547241 - Germline - - - - Despoina Kalfakakou, Stevi Xera
./., ?/? 13 - c.242-5587G>C r.(=) p.(=) g.161326532G>C - SDHC_000015 - - Germline - - - - Despoina Kalfakakou, Stevi Xera
./., ?/? 8 - c.242-5555C>T r.(=) p.(=) g.161326564C>T - SDHC_000016 - - Germline - - - - Despoina Kalfakakou, Stevi Xera
-/- 2 - c.242-5553A>T r.(=) p.(=) g.161326566A>T - SDHC_000017  rs386833413 - Germline - - - - Despoina Kalfakakou
./. 1 - c.242-5527C>T r.(=) p.(=) g.161326592C>T - SDHC_000029 - - - - - - - Stevi Xera
-?/-? 1 - c.242-5476G>A r.(=) p.(=) g.161326643G>A - SDHC_000024 rs369274171 - Germline - - - - Despoina Kalfakakou
?/? 3 - c.242-5466C>T r.(=) p.(=) g.161326653C>T - SDHC_000006 rs373731336 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.242-5453A>G r.(=) p.(=) g.161326666A>G - SDHC_000008 rs553800744 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.321C>G r.(=) p.(=) g.161332198C>G - SDHC_000026 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.368A>G r.(?) p.(His123Arg) g.161332245A>G - SDHC_000007 - - Germline - - - - Despoina Kalfakakou
Legend