Unique variants in gene SBDS

Information The variants shown are described using the NM_016038.2 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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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     
?/? 4 - c.-16T>A r.(=) p.(=) g.66460420A>T - SBDS_000019 rs182989808 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.66T>C r.(=) p.(=) g.66460339A>G - SBDS_000024 rs774593246 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.70G>A r.(?) p.(Gly24Arg) g.66460335C>T - SBDS_000023 rs749830607 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.98A>G r.(?) p.(Lys33Arg) g.66460307T>C - SBDS_000029 rs373730800 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.107T>C r.(?) p.(Val36Ala) g.66460298A>G - SBDS_000026 rs548436732 - Germline - - - - Despoina Kalfakakou
-?/-? 9 - c.127G>T r.(?) p.(Val43Leu) g.66460278C>A - SBDS_000007 rs147652512 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.128+9C>A r.(=) p.(=) g.66460268G>T - SBDS_000004 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.129-51G>T r.(=) p.(=) g.66459379C>A - SBDS_000003 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.183T>C r.(=) p.(=) g.66459274A>G - SBDS_000015 rs200346194 - Germline - - - - Despoina Kalfakakou
+/+ 2 - c.184A>T r.(?) p.(Lys62*) g.66459273T>A - SBDS_000016 rs120074160 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.192G>C r.(?) p.(Gln64His) g.66459265C>G - SBDS_000002 rs755622907 - Germline - - - - Despoina Kalfakakou
-/- 2 - c.201A>G r.(=) p.(=) g.66459256T>C - SBDS_000032 rs1061695 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.235G>C r.(?) p.(Asp79His) g.66459222C>G - SBDS_000012 - - Germline - - - - Despoina Kalfakakou
+?/+? 10 - c.258+2T>C r.spl? p.? g.66459197A>G - SBDS_000006 rs113993993 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.258+49A>G - - g.66459150T>C - SBDS_000030 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.259-20A>C r.(=) p.(=) g.66458424T>G - SBDS_000028 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.266C>G r.(?) p.(Thr89Ser) g.66458397G>C - SBDS_000025 rs767695678 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.304A>G r.(?) p.(Thr102Ala) g.66458359T>C - SBDS_000018 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.338C>T r.(?) p.(Thr113Ile) g.66458325G>A - SBDS_000013 rs13311116 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.387C>T r.(=) p.(=) g.66458276G>A - SBDS_000021 - - Germline - - - - Despoina Kalfakakou
+/+ 5 - c.460-1G>A r.spl? p.? g.66456289C>T - SBDS_000008 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.625-46_625-45del r.(=) p.(=) g.66453531_66453532del - SBDS_000031 - - Germline - - - - Despoina Kalfakakou
?/? 34 - c.625-29G>T r.(=) p.(=) g.66453515C>A - SBDS_000009 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.625-28T>G r.(=) p.(=) g.66453514A>C - SBDS_000022 - - Germline - - - - Despoina Kalfakakou
?/? 35 - c.625-22T>A r.(=) p.(=) g.66453508A>T - SBDS_000010 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.635T>A r.(?) p.(Ile212Asn) g.66453476A>T - SBDS_000017 rs79344818 - Germline - - - - Despoina Kalfakakou
?/? 3 - c.641C>T r.(?) p.(Pro214Leu) g.66453470G>A - SBDS_000011 rs1217811332 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.703G>C r.(?) p.(Glu235Gln) g.66453408C>G - SBDS_000014 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.731A>G r.(?) p.(Glu244Gly) g.66453380T>C - SBDS_000020 - - Germline - - - - Despoina Kalfakakou
?/? 19 - c.*10A>G r.(=) p.(=) g.66453348T>C - SBDS_000005 rs11557421 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.*37G>A r.(=) p.(=) g.66453321C>T - SBDS_000027 - - Germline - - - - Despoina Kalfakakou
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