Unique variants in gene RAD51D

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

35 entries on 1 page. Showing entries 1 - 35.
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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     
?/? 1 - c.26G>C r.(?) p.(Cys9Ser) g.33446607C>G - RAD51D_000022 rs140825795 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.33C>T r.(=) p.(=) g.33446600G>A - RAD51D_000028 rs760444811 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.71G>A r.(?) p.(Arg24Lys) g.33446562C>T - RAD51D_000026 rs947444435 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.82+49T>A r.(=) p.(=) g.33446502A>T - RAD51D_000025 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.144+31G>A r.(=) p.(=) g.33446099C>T - RAD51D_000027 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.145-40C>T r.(=) p.(=) g.33445678G>A - RAD51D_000002 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.145-39G>T r.(=) p.(=) g.33445677C>A - RAD51D_000023 rs7207508 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.145-5G>C r.spl? p.? g.33445643C>G - RAD51D_000016 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.196G>A r.(?) p.(Val66Met) g.33445587C>T - RAD51D_000008 rs56026142 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.205G>A r.(?) p.(Ala69Thr) g.33445578C>T - RAD51D_000034 rs763439048 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.345+26G>T r.(=) p.(=) g.33434359C>A - RAD51D_000018 rs1050979254 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.384G>C r.(=) p.(=) g.33434103C>G - RAD51D_000006 rs1393403501 - Germline - - - - Despoina Kalfakakou
?/? 3 - c.412A>C r.(?) p.(Asn138His) g.33434075T>G Konstanta et al (2018) RAD51D_000005 rs141690729 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.451C>T r.(?) p.(Gln151*) g.33434036G>A Konstanta et al (2018) RAD51D_000030 rs587781756 - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.480+40_480+41insCA r.(=) p.(=) g.33433966_33433967insTG - RAD51D_000013 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.493C>T r.(?) p.(Arg165Trp) g.33433488G>A - RAD51D_000021 rs544654228 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.556C>T r.(?) p.(Arg186*) g.33433425G>A Konstanta et al (2018) RAD51D_000004 rs387906843 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.577-15C>T r.(=) p.(=) g.33430578G>A - RAD51D_000003 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.577G>T r.(?) p.(Val193Leu) g.33430563C>A - RAD51D_000014 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.594A>T r.(=) p.(=) g.33430546T>A - RAD51D_000011 - - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.667+9T>C r.(=) p.(=) g.33430464A>G - RAD51D_000015  rs772193051 - Germline - - - - Despoina Kalfakakou
-?/-? 3 - c.695G>A r.(?) p.(Arg232Gln) g.33430316C>T - RAD51D_000007 rs28363283 - Germline - - - - Despoina Kalfakakou
./. 1 - c.698A>G r.(?) p.(Glu233Gly) g.33430313T>C - RAD51D_000035 rs28363284 - - - - - - Stevi Xera
+/+ 1 - c.738+1G>A r.spl? p.Val246fsTer92 g.33430272C>T Konstanta et al (2018) RAD51D_000033 rs1567726124 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.738+46_738+84dup r.(=) p.(=) g.33430189_33430227dup Konstanta et al (2018) RAD51D_000032 - - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.738+51C>G r.(=) p.(=) g.33430222G>C - RAD51D_000024 rs763355652 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.785C>T r.(?) p.(Pro262Leu) g.33428338G>A - RAD51D_000020 rs730881950 - Germline - - - - Despoina Kalfakakou
?/? 4 - c.796C>T r.(?) p.(Arg266Cys) g.33428327G>A Konstanta et al (2018) RAD51D_000001 rs587781813 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.803G>A r.(?) p.(Trp268*) g.33428320C>T - RAD51D_000019  rs750219200 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.898C>T r.(?) p.(Arg300*) g.33428225G>A Konstanta et al (2018) RAD51D_000029 rs750621215 - Germline ? - - - Despoina Kalfakakou
-?/-? 1 - c.900A>G r.(=) p.(=) g.33428223T>C - RAD51D_000017 rs370634278 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.901C>T r.(?) p.(Gln301*) g.33428222G>A - RAD51D_000031  rs1060502959 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.903+40del r.(=) p.(=) g.33428180del - RAD51D_000012 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.904-11T>A r.(=) p.(=) g.33428066A>T - RAD51D_000009 rs374449943 - Germline - - - - Despoina Kalfakakou
?/? 3 - c.932T>A r.(?) p.(Ile311Asn) g.33428027A>T Konstanta et al (2018) RAD51D_000010 rs145309168 - Germline - - - - Despoina Kalfakakou
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