Unique variants in gene SDHD

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

13 entries on 1 page. Showing entries 1 - 13.
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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     
?/? 31 - c.149A>G r.(?) p.(His50Arg) g.111958677A>G - SDHD_000003 rs11214077 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.169+861C>T r.(=) p.(=) g.111959558C>T - SDHD_000009 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.169+927G>A r.(=) p.(=) g.111959624G>A - SDHD_000004 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.169+940C>G r.(=) p.(=) g.111959637C>G - SDHD_000012 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.169+1036C>T r.(=) p.(=) g.111959733C>T - SDHD_000013 rs61734352 - Germline - - - - Despoina Kalfakakou
?/? 7 - c.169+1089A>T r.(=) p.(=) g.111959786A>T - SDHD_000005 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.170-29T>C r.(=) p.(=) g.111965500T>C - SDHD_000007 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.190C>T r.(=) p.(=) g.111965549C>T - SDHD_000008  rs199869408 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.196A>G r.(?) p.(Met66Val) g.111965555A>G Andrews et al (2018)  SDHD_000002 rs104894304 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.232C>G r.(?) p.(Gln78Glu) g.111965591C>G - SDHD_000006 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.241T>C r.(?) p.(Trp81Arg) g.111965600T>C - SDHD_000011 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.242G>A r.(?) p.(Trp81*) g.111965601G>A - SDHD_000010 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.*36G>A r.(=) p.(=) g.111965653G>A - SDHD_000001 - - Germline - - - - Despoina Kalfakakou
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