All transcript variants in gene RHBDF2

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

223 entries on 3 pages. Showing entries 1 - 100.
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Effect     

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     
?/? - c.95C>T r.(?) p.(Pro32Leu) g.74477512G>A - RHBDF2_000038 rs767534962 - Germline - - - - Despoina Kalfakakou
?/? - c.112A>G r.(?) p.(Thr38Ala) g.74477495T>C - RHBDF2_000072 - - Germline - - - - Despoina Kalfakakou
?/? - c.129G>A r.(=) p.(=) g.74477478C>T - RHBDF2_000033 rs200918444 - Germline - - - - Despoina Kalfakakou
?/? - c.150+24C>A r.(=) p.(=) g.74477433G>T - RHBDF2_000053 - - Germline - - - - Despoina Kalfakakou
?/? - c.151-35A>T r.(=) p.(=) g.74475971T>A - RHBDF2_000058 - - Germline - - - - Despoina Kalfakakou
?/? - c.151-7C>G r.(=) p.(=) g.74475943G>C - RHBDF2_000059 - - Germline - - - - Despoina Kalfakakou
?/? - c.152G>C r.(?) p.(Arg51Thr) g.74475935C>G - RHBDF2_000073 rs145785567 - Germline - - - - Despoina Kalfakakou
?/? - c.178G>A r.(?) p.(Val60Ile) g.74475909C>T - RHBDF2_000022 rs141169581 - Germline - - - - Despoina Kalfakakou
?/? - c.272+10C>G r.(=) p.(=) g.74475805G>C - RHBDF2_000019 - - Germline - - - - Despoina Kalfakakou
?/? - c.273-52T>G r.(=) p.(=) g.74475411A>C - RHBDF2_000012 - - Germline - - - - Despoina Kalfakakou
?/? - c.300C>T r.(=) p.(=) g.74475332G>A - RHBDF2_000011 rs751973988 - Germline - - - - Despoina Kalfakakou
?/? - c.304G>A r.(?) p.(Asp102Asn) g.74475328C>T - RHBDF2_000060 rs150978674 - Germline - - - - Despoina Kalfakakou
-/- - c.314G>A r.(?) p.(Gly105Glu) g.74475318C>T - RHBDF2_000021 rs142642633 - Germline - - - - Despoina Kalfakakou
-/- - c.314G>A r.(?) p.(Gly105Glu) g.74475318C>T - RHBDF2_000021 rs142642633 - Germline - - - - Despoina Kalfakakou
-/- - c.314G>A r.(?) p.(Gly105Glu) g.74475318C>T - RHBDF2_000021 rs142642633 - Germline - - - - Despoina Kalfakakou
-/- - c.314G>A r.(?) p.(Gly105Glu) g.74475318C>T - RHBDF2_000021 rs142642633 - Germline - - - - Despoina Kalfakakou
-/- - c.314G>A r.(?) p.(Gly105Glu) g.74475318C>T - RHBDF2_000021 rs142642633 - Germline - - - - Despoina Kalfakakou
-/- - c.314G>A r.(?) p.(Gly105Glu) g.74475318C>T - RHBDF2_000021 rs142642633 - Germline - - - - Despoina Kalfakakou
-?/-? - c.327G>T r.(?) p.(Gln109His) g.74475305C>A - RHBDF2_000020 rs763124357 - Germline - - - - Despoina Kalfakakou
?/? - c.337C>T r.(?) p.(Arg113Cys) g.74475295G>A - RHBDF2_000044 rs748232908 - Germline - - - - Despoina Kalfakakou
?/? - c.362G>T r.(?) p.(Arg121Leu) g.74475270C>A - RHBDF2_000055 rs976300735 - Germline - - - - Despoina Kalfakakou
?/? - c.371G>A r.(?) p.(Arg124His) g.74475261C>T - RHBDF2_000004 rs766606016 - Germline - - - - Despoina Kalfakakou
?/? - c.389A>T r.(?) p.(Gln130Leu) g.74475243T>A - RHBDF2_000074 rs1200366741 - Germline - - - - Despoina Kalfakakou
-?/-? - c.391C>T r.(?) p.(Arg131Cys) g.74475241G>A - RHBDF2_000046 rs751482282 - Germline - - - - Despoina Kalfakakou
?/? - c.423G>A r.(=) p.(=) g.74475209C>T - RHBDF2_000051 rs773372003 - Germline - - - - Despoina Kalfakakou
?/? - c.459G>A r.(=) p.(=) g.74475173C>T - RHBDF2_000039 - - Germline - - - - Despoina Kalfakakou
-/- - c.510G>A r.(=) p.(=) g.74475050C>T - RHBDF2_000063 rs140265206 - Germline - - - - Despoina Kalfakakou
-/- - c.510G>A r.(=) p.(=) g.74475050C>T - RHBDF2_000063 rs140265206 - Germline - - - - Despoina Kalfakakou
-/- - c.546G>A r.(=) p.(=) g.74475014C>T - RHBDF2_000062 rs3744044 - Germline - - - - Despoina Kalfakakou
?/? - c.561C>G r.(=) p.(=) g.74474999G>C - RHBDF2_000050 - - Germline - - - - Despoina Kalfakakou
?/? - c.586G>C r.(?) p.(Val196Leu) g.74474974C>G - RHBDF2_000049 - - Germline - - - - Despoina Kalfakakou
?/? - c.673-51C>T r.(=) p.(=) g.74473918G>A - RHBDF2_000042 - - Germline - - - - Despoina Kalfakakou
?/? - c.673G>A r.(?) p.(Gly225Arg) g.74473867C>T - RHBDF2_000010 rs762067372 - Germline - - - - Despoina Kalfakakou
?/? - c.684G>A r.(=) p.(=) g.74473856C>T - RHBDF2_000037 rs773001667 - Germline - - - - Despoina Kalfakakou
-/- - c.788C>T r.(?) p.(Ser263Phe) g.74473752G>A - RHBDF2_000070 rs116968311 - Germline - - - - Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) g.74473698C>A - RHBDF2_000003 - - Germline - - - - Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) g.74473698C>A - RHBDF2_000003 - - Germline - - - - Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) g.74473698C>A - RHBDF2_000003 - - Germline - - - - Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) g.74473698C>A - RHBDF2_000003 - - Germline - - - - Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) g.74473698C>A - RHBDF2_000003 - - Germline - - - - Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) g.74473698C>A - RHBDF2_000003 - - Germline - - - - Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) g.74473698C>A - RHBDF2_000003 - - Germline - - - - Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) g.74473698C>A - RHBDF2_000003 - - Germline - - - - Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) g.74473698C>A - RHBDF2_000003 - - Germline - - - - Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) g.74473698C>A - RHBDF2_000003 - - Germline - - - - Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) g.74473698C>A - RHBDF2_000003 - - Germline - - - - Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) g.74473698C>A - RHBDF2_000003 - - Germline - - - - Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) g.74473698C>A - RHBDF2_000003 - - Germline - - - - Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) g.74473698C>A - RHBDF2_000003 - - Germline - - - - Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) g.74473698C>A - RHBDF2_000003 - - Germline - - - - Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) g.74473698C>A - RHBDF2_000003 - - Germline - - - - Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) g.74473698C>A - RHBDF2_000003 - - Germline - - - - Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) g.74473698C>A - RHBDF2_000003 - - Germline - - - - Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) g.74473698C>A - RHBDF2_000003 - - Germline - - - - Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) g.74473698C>A - RHBDF2_000003 - - Germline - - - - Despoina Kalfakakou
?/? - c.801+41G>T r.(=) p.(=) g.74473698C>A - RHBDF2_000003 - - Germline - - - - Despoina Kalfakakou
-/- - c.853G>A r.(?) p.(Ala285Thr) g.74473329C>T - RHBDF2_000002 rs140433374 - Germline - - - - Despoina Kalfakakou
-/- - c.853G>A r.(?) p.(Ala285Thr) g.74473329C>T - RHBDF2_000002 rs140433374 - Germline - - - - Despoina Kalfakakou
?/? - c.920+30G>T r.(=) p.(=) g.74473232C>A - RHBDF2_000009 - - Germline - - - - Despoina Kalfakakou
-/- - c.949G>A r.(?) p.(Gly317Arg) g.74473078C>T - RHBDF2_000018 rs144817869 - Germline - - - - Despoina Kalfakakou
-/- - c.949G>A r.(?) p.(Gly317Arg) g.74473078C>T - RHBDF2_000018 rs144817869 - Germline - - - - Despoina Kalfakakou
-/- - c.949G>A r.(?) p.(Gly317Arg) g.74473078C>T - RHBDF2_000018 rs144817869 - Germline - - - - Despoina Kalfakakou
-/- - c.949G>A r.(?) p.(Gly317Arg) g.74473078C>T - RHBDF2_000018 rs144817869 - Germline - - - - Despoina Kalfakakou
-/- - c.949G>A r.(?) p.(Gly317Arg) g.74473078C>T - RHBDF2_000018 rs144817869 - Germline - - - - Despoina Kalfakakou
-/- - c.949G>A r.(?) p.(Gly317Arg) g.74473078C>T - RHBDF2_000018 rs144817869 - Germline - - - - Despoina Kalfakakou
-/- - c.949G>A r.(?) p.(Gly317Arg) g.74473078C>T - RHBDF2_000018 rs144817869 - Germline - - - - Despoina Kalfakakou
?/? - c.955C>T r.(?) p.(Arg319Trp) g.74473072G>A - RHBDF2_000008 rs749017499 - Germline - - - - Despoina Kalfakakou
?/? - c.955C>T r.(?) p.(Arg319Trp) g.74473072G>A - RHBDF2_000008 rs749017499 - Germline - - - - Despoina Kalfakakou
?/? - c.956G>A r.(?) p.(Arg319Gln) g.74473071C>T - RHBDF2_000054 rs149436907 - Germline - - - - Despoina Kalfakakou
?/? - c.956G>A r.(?) p.(Arg319Gln) g.74473071C>T - RHBDF2_000054 rs149436907 - Germline - - - - Despoina Kalfakakou
?/? - c.961G>A r.(?) p.(Gly321Ser) g.74473066C>T - RHBDF2_000040 rs781186202 - Germline - - - - Despoina Kalfakakou
?/? - c.995C>T r.(?) p.(Ala332Val) g.74473032G>A - RHBDF2_000026 rs144193184 - Germline - - - - Despoina Kalfakakou
-/- - c.1004G>A r.(?) p.(Arg335Gln) g.74473023C>T - RHBDF2_000025 rs146134173 - Germline - - - - Despoina Kalfakakou
-/- - c.1004G>A r.(?) p.(Arg335Gln) g.74473023C>T - RHBDF2_000025 rs146134173 - Germline - - - - Despoina Kalfakakou
-/- - c.1004G>A r.(?) p.(Arg335Gln) g.74473023C>T - RHBDF2_000025 rs146134173 - Germline - - - - Despoina Kalfakakou
-/- - c.1004G>A r.(?) p.(Arg335Gln) g.74473023C>T - RHBDF2_000025 rs146134173 - Germline - - - - Despoina Kalfakakou
?/? - c.1026C>T r.(=) p.(=) g.74473001G>A - RHBDF2_000069 rs747665496 - Germline - - - - Despoina Kalfakakou
?/? - c.1116-47G>A r.(=) p.(=) g.74471270C>T - RHBDF2_000024 - - Germline - - - - Despoina Kalfakakou
?/? - c.1116-46T>C r.(=) p.(=) g.74471269A>G - RHBDF2_000023 - - Germline - - - - Despoina Kalfakakou
?/? - c.1116-46T>C r.(=) p.(=) g.74471269A>G - RHBDF2_000023 - - Germline - - - - Despoina Kalfakakou
?/? - c.1116-35G>A r.(=) p.(=) g.74471258C>T - RHBDF2_000001 rs62085019 - Germline - - - - Despoina Kalfakakou
?/? - c.1116-35G>A r.(=) p.(=) g.74471258C>T - RHBDF2_000001 rs62085019 - Germline - - - - Despoina Kalfakakou
?/? - c.1116-35G>A r.(=) p.(=) g.74471258C>T - RHBDF2_000001 rs62085019 - Germline - - - - Despoina Kalfakakou
?/? - c.1116-35G>A r.(=) p.(=) g.74471258C>T - RHBDF2_000001 rs62085019 - Germline - - - - Despoina Kalfakakou
?/? - c.1116-35G>A r.(=) p.(=) g.74471258C>T - RHBDF2_000001 rs62085019 - Germline - - - - Despoina Kalfakakou
?/? - c.1116-35G>A r.(=) p.(=) g.74471258C>T - RHBDF2_000001 rs62085019 - Germline - - - - Despoina Kalfakakou
?/? - c.1116-35G>A r.(=) p.(=) g.74471258C>T - RHBDF2_000001 rs62085019 - Germline - - - - Despoina Kalfakakou
?/? - c.1116-35G>A r.(=) p.(=) g.74471258C>T - RHBDF2_000001 rs62085019 - Germline - - - - Despoina Kalfakakou
?/? - c.1116-35G>A r.(=) p.(=) g.74471258C>T - RHBDF2_000001 rs62085019 - Germline - - - - Despoina Kalfakakou
?/? - c.1116-35G>A r.(=) p.(=) g.74471258C>T - RHBDF2_000001 rs62085019 - Germline - - - - Despoina Kalfakakou
?/? - c.1189G>T r.(?) p.(Ala397Ser) g.74471150C>A - RHBDF2_000045 rs148300552 - Germline - - - - Despoina Kalfakakou
?/? - c.1227+26G>C r.(=) p.(=) g.74471086C>G - RHBDF2_000064 - - Germline - - - - Despoina Kalfakakou
?/? - c.1303-8T>C r.(=) p.(=) g.74470624A>G - RHBDF2_000065 - - Germline - - - - Despoina Kalfakakou
?/? - c.1335A>G r.(=) p.(=) g.74470584T>C - RHBDF2_000016 rs765168441 - Germline - - - - Despoina Kalfakakou
?/? - c.1346G>A r.(?) p.(Arg449Gln) g.74470573C>T - RHBDF2_000048 rs763844221 - Germline - - - - Despoina Kalfakakou
?/? - c.1363G>A r.(?) p.(Glu455Lys) g.74470556C>T - RHBDF2_000075 rs147819473 - Germline - - - - Despoina Kalfakakou
?/? - c.1380C>T r.(=) p.(=) g.74470539G>A - RHBDF2_000015 rs34005184 - Germline - - - - Despoina Kalfakakou
?/? - c.1395G>T r.(?) p.(Glu465Asp) g.74470524C>A - RHBDF2_000028 - - Germline - - - - Despoina Kalfakakou
-/- - c.1396C>T r.(?) p.(Arg466Trp) g.74470523G>A - RHBDF2_000005 rs143503813 - Germline - - - - Despoina Kalfakakou
-/- - c.1396C>T r.(?) p.(Arg466Trp) g.74470523G>A - RHBDF2_000005 rs143503813 - Germline - - - - Despoina Kalfakakou
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