Unique variants in gene VHL

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

38 entries on 1 page. Showing entries 1 - 38.
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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.-36C>G r.(=) p.(=) g.10183496C>G - VHL_000019 rs1349047110 - Germline - - - - Despoina Kalfakakou
+/+ 3 1 c.(?) r.(?) p.(?) g.(10183453_10183569)_(10183988_10187800)del, g.(10188276_10191524)_(10191593_?)del Franke et al (2009) VHL_000037, VHL_000038 - HGVS description is probe-based., 1 more item Germline - VHL exon 1 deletion, VHL exon 3 deletion - - Despoina Kalfakakou
+/+ 1 - c.264 G>C r.(?) p.(Trp88Cys) g.10183795G>C Rechsteiner et al (2011), Gläsker et al (1999) VHL_000024 rs869025622 - Germline ? - - - Despoina Kalfakakou
+/+ 1 - c.294 C>A r.(?) p.(Tyr98*) g.10183825C>A - VHL_000033 rs1559426115 - Germline ? - - - Despoina Kalfakakou
+/+ 1 - c.337 C>T r.(?) p.(Arg113*) g.10183868C>T Zbar et al (1996) VHL_000034 rs5030810 - Germline ? - - - Despoina Kalfakakou
-?/-?, ./. 13 - c.74C>T r.(?) p.(Pro25Leu) g.10183605C>T - VHL_000001 rs35460768 - Germline - - - - Despoina Kalfakakou, Stevi Xera
?/? 1 - c.104C>A r.(?) p.(Ala35Asp) g.10183635C>A - VHL_000023 rs587780536 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.114C>T r.(=) p.(=) g.10183645C>T - VHL_000013 rs417164 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.181C>G r.(?) p.(Pro61Ala) g.10183712C>G - VHL_000003  rs113612866 - Germline - - - - Despoina Kalfakakou
-?/-? 10 - c.183C>G r.(=) p.(=) g.10183714C>G - VHL_000004 rs63650860 - Germline - - - - Despoina Kalfakakou
+/+ 2 - c.207_208del r.(?) p.(Glu70Alafs*61) g.10183738_10183739del - VHL_000036 - - Germline ? - - - Despoina Kalfakakou
+/+ 2 - c.227_229del r.(?) p.(Phe76del) g.10183758_10183760del Ong et al (2007) VHL_000035 rs5030648 - Germline ? - - - Despoina Kalfakakou
+/+ 1 - c.233A>C r.(?) p.(Asn78Thr) g.10183764A>C Qi et al (2013) VHL_000025 rs5030804 - Germline ? - - - Despoina Kalfakakou
?/? 2 - c.258C>G r.(=) p.(=) g.10183789C>G - VHL_000005 rs781063331 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.259del r.(?) p.(Val87Tyrfs*72) g.10183790del - VHL_000029 - - Germline ? - - - Despoina Kalfakakou
./. 1 - c.280G>A r.(?) p.(Glu94Lys) g.10183811G>A - VHL_000039 rs5030829 - - - - - - Stevi Xera
-?/-? 1 - c.297A>C r.(=) p.(=) g.10183828A>C - VHL_000016  rs774753107 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.332G>A r.(?) p.(Ser111Asn) g.10183863G>A Ong et al (2007) VHL_000030 rs869025631 - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.340+24G>A r.(=) p.(=) g.10183895G>A - VHL_000006 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.341-15T>C r.(=) p.(=) g.10188183T>C - VHL_000014 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.341-5G>A r.spl? p.? g.10188193G>A - VHL_000015 rs372340900 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.345C>T r.(=) p.(=) g.10188202C>T - VHL_000007  rs864622646 - Germline - - - - Despoina Kalfakakou
+/+ 9 - c.350G>A r.(?) p.(Trp117*) g.10188207G>A - VHL_000027 rs1559428056 - Germline ? - - - Despoina Kalfakakou
+/+ 1 - c.353T>C r.(?) p.(Leu118Pro) g.10188210T>C Ong et al (2007) VHL_000028 rs5030830 - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.373C>T r.(?) p.(His125Tyr) g.10188230C>T - VHL_000022  rs375401722 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.375C>T r.(=) p.(=) g.10188232C>T - VHL_000018 rs863224372 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.463+8C>T r.(=) p.(=) g.10188328C>T - VHL_000008 rs5030834 - Germline - - - - Despoina Kalfakakou
+/+ 2 - c.551T>C r.(?) p.(Leu184Pro) g.10191558T>C Zbar et al (1996) VHL_000026 rs1064793878 - Germline ? - - - Despoina Kalfakakou
-?/-? 1 - c.552C>T r.(=) p.(=) g.10191559C>T - VHL_000009 rs779157605 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.556G>T r.(?) p.(Glu186*) g.10191563G>T Zbar et al (1996) VHL_000032 rs367545984 - Germline ? - - - Despoina Kalfakakou
+/+ 1 - c.563T>G r.(?) p.(Leu188Arg) g.10191570T>G Leonardi et al (2011) VHL_000031 rs1559429824 - Germline ? - - - Despoina Kalfakakou
?/? 3 - c.575C>G r.(?) p.(Pro192Arg) g.10191582C>G - VHL_000020 rs902694906 - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.588A>G r.(=) p.(=) g.10191595A>G - VHL_000021 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.628C>T r.(?) p.(Arg210Trp) g.10191635C>T - VHL_000012 rs774380450 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.629G>A r.(?) p.(Arg210Gln) g.10191636G>A - VHL_000010 rs138780791 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.631A>C r.(?) p.(Met211Leu) g.10191638A>C - VHL_000011 rs200019083 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.*22C>G r.(=) p.(=) g.10191671C>G - VHL_000017 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.*47A>G r.(=) p.(=) g.10191696A>G - VHL_000002 - - Germline - - - - Despoina Kalfakakou
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