Unique variants in gene SDHB

Information The variants shown are described using the NM_003000.2 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.-37T>C r.(=) p.(=) g.17380551A>G - SDHB_000014 rs143031690 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.-17T>G r.(=) p.(=) g.17380531A>C - SDHB_000018 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.-8G>C r.(=) p.(=) g.17380522C>G - SDHB_000005 rs376889033 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.423+1 G>A r.spl? p.? g.17355094C>T - SDHB_000034 rs398122805 - Germline ? - - - Despoina Kalfakakou
-?/-? 6 - c.24C>T r.(=) p.(=) g.17380491G>A - SDHB_000004 rs148738139 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.50C>T r.(?) p.(Thr17Ile) g.17380465G>A - SDHB_000021 rs138979875 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.65G>C r.(?) p.(Cys22Ser) g.17380450C>G - SDHB_000026  rs141230910 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.72+43_72+44del r.(=) p.(=) g.17380399_17380400del - SDHB_000030 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.73-38del r.(=) p.(=) g.17371421del - SDHB_000006 - - Germline - - - - Despoina Kalfakakou
+/+ 9 - c.137G>A r.(?) p.(Arg46Gln) g.17371319C>T Andrews et al (2018)   Kim et al (2015) SDHB_000036 rs772551056 - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.143A>T r.(?) p.(Asp48Val) g.17371313T>A - SDHB_000013 rs202101384 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.178A>G r.(?) p.(Thr60Ala) g.17371278T>C - SDHB_000008 rs34599281 - Germline - - - - Despoina Kalfakakou
+?/+? 3 - c.269G>A r.(?) p.(Arg90Gln) g.17359572C>T Panizza et al (2013) SDHB_000023 rs570278423 - Germline ? - - - Despoina Kalfakakou
-?/-? 1 - c.287-26A>G r.(=) p.(=) g.17355257T>C - SDHB_000028 rs201397253 - Germline - - - - Despoina Kalfakakou
-?/-? 44 - c.300T>C r.(=) p.(=) g.17355218A>G - SDHB_000003 rs11541235 - Germline - - - - Despoina Kalfakakou
-?/-? 17 - c.423+20T>A r.(=) p.(=) g.17355075A>T - SDHB_000007 rs190139590 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.423+25T>G r.(=) p.(=) g.17355070A>C - SDHB_000019 - - Germline - - - - Despoina Kalfakakou
?/? 11 - c.424-19_424-14del r.(=) p.(=) g.17354374_17354379del - SDHB_000002  rs34261028 - Germline - - - - Despoina Kalfakakou
?/? 11 - c.424-14_424-13insTTC r.(=) p.(=) g.17354373_17354374insGAA - SDHB_000012 - - Germline - - - - Despoina Kalfakakou
?/? 20 - c.424-14_424-13insTTCTTC r.(=) p.(=) g.17354373_17354374insGAAGAA - SDHB_000010 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.440A>G r.(?) p.(Tyr147Cys) g.17354344T>C - SDHB_000022 rs774568101 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.445C>T r.(?) p.(Gln149*) g.17354339G>A - SDHB_000029  rs876658451 - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.477G>A r.(=) p.(=) g.17354307C>T - SDHB_000017 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.541-14_541-13del r.(=) p.(=) g.17350582_17350583del - SDHB_000016 - - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.543C>T r.(=) p.(=) g.17350567G>A - SDHB_000009 rs199809975 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.643-49G>A r.(=) p.(=) g.17349274C>T - SDHB_000025 rs201843552 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.647A>G r.(?) p.(Tyr216Cys) g.17349221T>C - SDHB_000027 rs1553177291 - Germline - - - - Despoina Kalfakakou
+/+ 3 - c.718_721del r.(?) p.(Leu240Thrfs*7) g.17349147_17349150del - SDHB_000035 rs794728950 - Germline ? - - - Despoina Kalfakakou
+/+ 3 - c.761dup r.(?) p.(Lys255*) g.17349107dup - SDHB_000024 rs34309090 - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.765+5G>A r.spl? p.? g.17349098C>T - SDHB_000020 rs199945904 - Germline - - - - Despoina Kalfakakou
-/- 1 - c.765+13G>A r.(=) p.(=) g.17349090C>T - SDHB_000031  rs115561881 - Germline - - - - Despoina Kalfakakou
-?/-? 11 - c.765+29G>A r.(=) p.(=) g.17349074C>T - SDHB_000001 rs41273161 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.766-40C>T r.(=) p.(=) g.17345493G>A - SDHB_000011 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.798C>T r.(=) p.(=) g.17345421G>A - SDHB_000015 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.*22T>C r.(=) p.(=) g.17345354A>G - SDHB_000032 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.*25A>G r.(=) p.(=) g.17345351T>C - SDHB_000033 - - Germline - - - - Despoina Kalfakakou
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