Full data view for gene F5

Information The variants shown are described using the NM_000130.4 transcript reference sequence.

236 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.? r.? p.? Unknown - pathogenic g.? - - - NPHS2_000000 - PubMed: Schrijver 2002 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 11929802-Pat? PubMed: Schrijver 2002 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - - - NPHS2_000000 - PubMed: Peyvandi 2002 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 12010428-Pat? PubMed: Peyvandi 2002 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - - - NPHS2_000000 - PubMed: Peyvandi 2002 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 12010428-Pat? PubMed: Peyvandi 2002 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - - - NPHS2_000000 - PubMed: Fu 2003 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 12757640-Pat? PubMed: Fu 2003 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - - - NPHS2_000000 - PubMed: Asselta 2003 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 12871325-Pat? PubMed: Asselta 2003 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - - - NPHS2_000000 - PubMed: Zheng 2006 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 17029198-Pat? PubMed: Zheng 2006 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - - - NPHS2_000000 - PubMed: Lunghi 2008 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 18310546-Pat? PubMed: Lunghi 2008 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - - - NPHS2_000000 - PubMed: Dall'Osso 2008 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 18728029-Pat? PubMed: Dall'Osso 2008 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - - - NPHS2_000000 - PubMed: Dall'Osso 2008 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 18728029-Pat? PubMed: Dall'Osso 2008 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - - - NPHS2_000000 - PubMed: Delev 2009 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 19486170-Pat? PubMed: Delev 2009 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - - - NPHS2_000000 - PubMed: Cutler 2010 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 20546033-Pat? PubMed: Cutler 2010 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - - - NPHS2_000000 - PubMed: Castoldi 2011 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 21320286-Pat? PubMed: Castoldi 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - - - NPHS2_000000 - PubMed: Guella 2011 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 21614419-Pat? PubMed: Guella 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic g.? - - - NPHS2_000000 - PubMed: Guasch 1997 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 9157576-Pat? PubMed: Guasch 1997 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.136C>G r.(?) p.(Arg46Gly) Unknown - likely benign g.169555489G>C g.169586251G>C F5(NM_000130.4):c.136C>G (p.R46G) - F5_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.237A>G r.(?) p.(Gln79=) Unknown - benign g.169551682T>C g.169582444T>C F5(NM_000130.5):c.237A>G (p.Q79=) - F5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.237A>G r.(?) p.(Gln79=) Unknown - benign g.169551682T>C g.169582444T>C F5(NM_000130.5):c.237A>G (p.Q79=) - F5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.244A>G r.(?) p.(Ile82Val) Unknown - likely benign g.169551675T>C g.169582437T>C F5(NM_000130.4):c.244A>G (p.I82V) - F5_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.251-3832T>C r.(=) p.(=) Unknown - VUS g.169545413A>G g.169576175A>G - - F5_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. 3 c.269T>C r.(?) p.(Leu90Ser) Unknown - pathogenic g.169541563A>G g.169572325A>G - - F5_000141 - PubMed: Cutler 2010 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 20546033-Pat? PubMed: Cutler 2010 - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.283G>A r.(?) p.(Gly95Arg) Unknown - pathogenic g.169541549C>T g.169572311C>T - - F5_000140 - PubMed: Delev 2009 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 19486170-Pat? PubMed: Delev 2009 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.283G>A r.(?) p.(Gly95Arg) Unknown - likely pathogenic g.169541549C>T g.169572311C>T - - F5_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.286G>C r.(?) p.(Asp96His) Unknown - pathogenic g.169541546C>G g.169572308C>G - - F5_000139 - PubMed: Cao 2008 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 18788609-Pat? PubMed: Cao 2008 - - - - - - - - - 1 Johan den Dunnen
?/. 3 c.319G>C r.(?) p.(Asp107His) Unknown - VUS g.169541513C>G g.169572275C>G - - F5_000138 - PubMed: Yu 2009 - rs6019 Germline - - - - - DNA SEQ - - RPRGL 19020903-Pat? PubMed: Yu 2009 - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.355T>A r.(?) p.(Tyr119Asn) Unknown - pathogenic g.169541477A>T g.169572239A>T - - F5_000137 - PubMed: Delev 2008 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 18989519-Pat? PubMed: Delev 2008 - - - - - - - - - 1 Johan den Dunnen
?/. 4 c.403G>A r.(?) p.(Ala135Thr) Unknown - VUS g.169529975C>T g.169560737C>T - - F5_000136 - PubMed: Chegeni 2007 - - Germline - - - - - DNA SEQ - - ? 16542711-Pat? PubMed: Chegeni 2007 - - - - - - - - - 1 Johan den Dunnen
-/. - c.405G>A r.(?) p.(Ala135=) Unknown - benign g.169529973C>T g.169560735C>T - - F5_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.434del r.(?) p.(Gly145Alafs*34) Unknown - pathogenic g.169529945del g.169560707del 434delG - F5_000135 - PubMed: Traynis 2006 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 16732384-Pat? PubMed: Traynis 2006 - - - - - - - - - 1 Johan den Dunnen
+/. 4 c.439G>T r.(?) p.(Glu147*) Unknown - pathogenic g.169529939C>A g.169560701C>A - - F5_000134 - PubMed: Mumford 2003 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 14617013-Pat? PubMed: Mumford 2003 - - - - - - - - - 1 Johan den Dunnen
+/. 4 c.479C>G r.(?) p.(Pro160Arg) Unknown - pathogenic g.169529899G>C g.169560661G>C - - F5_000133 - PubMed: Paraboschi 2011 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 21777354-Pat? PubMed: Paraboschi 2011 - - - - - - - - - 1 Johan den Dunnen
?/. - c.479C>T r.(?) p.(Pro160Leu) Unknown - VUS g.169529899G>A - - - F5_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.524A>G r.(?) p.(His175Arg) Unknown - VUS g.169529854T>C g.169560616T>C - - F5_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.524A>G r.(?) p.(His175Arg) Parent #1 - VUS g.169529854T>C g.169560616T>C - - F5_000164 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201510575 Germline - 5/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
-?/. - c.524A>G r.(?) p.(His175Arg) Unknown - likely benign g.169529854T>C g.169560616T>C - - F5_000164 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.027 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
-/. - c.552G>T r.(?) p.(Ser184=) Unknown - benign g.169529826C>A g.169560588C>A - - F5_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.585del r.(?) p.(Thr197Profs*2) Unknown - pathogenic g.169529798del g.169560560del 585delA - F5_000132 - PubMed: Hou 2003 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 14575586-Pat? PubMed: Hou 2003 - - - - - - - - - 1 Johan den Dunnen
?/. 5 c.647C>T r.(?) p.(Ala216Val) Unknown - VUS g.169528474G>A g.169559236G>A - - F5_000131 - PubMed: Delev 2009 - - Germline - - - - - DNA SEQ - - ? 19486170-Pat? PubMed: Delev 2009 - - - - - - - - - 1 Johan den Dunnen
+/. 5 c.653T>C r.(?) p.(Phe218Ser) Unknown - pathogenic g.169528468A>G g.169559230A>G - - F5_000130 - PubMed: Kanaji 2009 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 19052695-Pat? PubMed: Kanaji 2009 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.676C>G r.(?) p.(Gln226Glu) Unknown - likely benign g.169528445G>C g.169559207G>C F5(NM_000130.4):c.676C>G (p.Q226E) - F5_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.692T>G r.(?) p.(Met231Arg) Unknown - pathogenic g.169528429A>C g.169559191A>C - - F5_000129 - PubMed: Chapla 2011 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 21647534-Pat? PubMed: Chapla 2011 - - - - - - - - - 1 Johan den Dunnen
+/. 5 c.706G>T r.(?) p.(Gly236*) Unknown - pathogenic g.169528415C>A g.169559177C>A - - F5_000128 - PubMed: Cutler 2010 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 20546033-Pat? PubMed: Cutler 2010 - - - - - - - - - 1 Johan den Dunnen
-/. - c.730+7C>T r.(=) p.(=) Unknown - benign g.169528384G>A g.169559146G>A - - F5_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.746C>T r.(?) p.(Ala249Val) Unknown - pathogenic g.169526090G>A g.169556852G>A - - F5_000127 - PubMed: Murray 1995 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 7655011-Pat? PubMed: Murray 1995 - - - - - - - - - 1 Johan den Dunnen
+/. 6 c.763T>C r.(?) p.(Trp255Arg) Unknown - pathogenic g.169526073A>G g.169556835A>G - - F5_000126 - PubMed: Delev 2009 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 19486170-Pat? PubMed: Delev 2009 - - - - - - - - - 1 Johan den Dunnen
+/. 6 c.776G>A r.(?) p.(Gly259Glu) Unknown - pathogenic g.169526060C>T g.169556822C>T - - F5_000125 - PubMed: Cutler 2010 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 20546033-Pat? PubMed: Cutler 2010 - - - - - - - - - 1 Johan den Dunnen
?/. 6 c.785C>G r.(?) p.(Ser262Trp) Unknown - VUS g.169526051G>C g.169556813G>C - - F5_000123 - PubMed: Caudill 2007 - - Germline - - - - - DNA SEQ - - ? 17166249-Pat? PubMed: Caudill 2007 - - - - - - - - - 1 Johan den Dunnen
+/. 6 c.785C>T r.(?) p.(Ser262Leu) Unknown - pathogenic g.169526051G>A g.169556813G>A - - F5_000124 - PubMed: Jin 2009 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 19900106-Pat? PubMed: Jin 2009 - - - - - - - - - 1 Johan den Dunnen
+/. 6 c.833A>G r.(?) p.(Gln278Arg) Unknown - pathogenic g.169526003T>C g.169556765T>C - - F5_000122 - PubMed: Delev 2009 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 19486170-Pat? PubMed: Delev 2009 - - - - - - - - - 1 Johan den Dunnen
+/. 6 c.911G>A r.(?) p.(Gly304Glu) Unknown - pathogenic g.169525925C>T g.169556687C>T - - F5_000121 - PubMed: Delev 2009 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 19486170-Pat? PubMed: Delev 2009 - - - - - - - - - 1 Johan den Dunnen
+/. - c.911G>A r.(?) p.(Gly304Glu) Unknown - pathogenic g.169525925C>T g.169556687C>T - - F5_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.1000A>G r.(?) p.(Arg334Gly) Unknown - pathogenic g.169524538T>C g.169555300T>C - - F5_000120 - PubMed: Chan 1998 - - Germline - - - - - DNA SEQ - - THPH2 9454741-Pat? PubMed: Chan 1998 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.1000A>G r.(?) p.(Arg334Gly) Unknown - likely benign g.169524538T>C g.169555300T>C - - F5_000120 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.022 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
+/. 7 c.1001G>C r.(?) p.(Arg334Thr) Unknown - pathogenic g.169524537C>G g.169555299C>G - - F5_000119 - PubMed: Williamson 1998 - rs118203906 Germline - - - - - DNA SEQ - - THPH2 9454742-Pat? PubMed: Williamson 1998 - - - - - - - - - 1 Johan den Dunnen
?/. - c.1001G>C r.(?) p.(Arg334Thr) Unknown - VUS g.169524537C>G - F5(NM_000130.4):c.1001G>C (p.(Arg334Thr)) - F5_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.1012A>T r.(?) p.(Lys338*) Unknown - pathogenic g.169524526T>A g.169555288T>A - - F5_000118 - PubMed: van Wijk 2001 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 11435304-Pat? PubMed: van Wijk 2001 - - - - - - - - - 1 Johan den Dunnen
+/. 7 c.1042_1049del r.(?) p.(Lys348Glyfs*32) Unknown - pathogenic g.169524491_169524498del g.169555253_169555260del 1042_1049delAAGAGGTG - F5_000117 - PubMed: van Wijk 2001 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 11435304-Pat? PubMed: van Wijk 2001 - - - - - - - - - 1 Johan den Dunnen
+/. 7 c.1059C>G r.(?) p.(Phe353Leu) Unknown - pathogenic g.169524479G>C g.169555241G>C - - F5_000116 - Hongli 2006, HumGenet online - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA ? Hongli 2006, HumGenet online - - - - - - - - - 1 Johan den Dunnen
+/. 7 c.1064C>T r.(?) p.(Ala355Val) Unknown - pathogenic g.169524474G>A g.169555236G>A - - F5_000115 - PubMed: Delev 2009 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 19486170-Pat? PubMed: Delev 2009 - - - - - - - - - 1 Johan den Dunnen
+/. 8 c.1128G>T r.(?) p.(Arg376Ser) Unknown - pathogenic g.169521963C>A g.169552725C>A - - F5_000114 - PubMed: Delev 2009 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 19486170-Pat? PubMed: Delev 2009 - - - - - - - - - 1 Johan den Dunnen
+/. 8 c.1160T>C r.(?) p.(Ile387Thr) Unknown - pathogenic g.169521931A>G g.169552693A>G - - F5_000113 - PubMed: Mumford 2003 - - Germline - - - - - DNA SEQ - - THPH2 14617013-Pat? PubMed: Mumford 2003 - - - - - - - - - 1 Johan den Dunnen
?/. 8 c.1238T>C r.(?) p.(Met413Thr) Unknown - VUS g.169521853A>G g.169552615A>G - - F5_000112 - PubMed: Jaaskelainen 2004 - rs6033 Germline - - - - - DNA SEQ - - ? 15450391-Pat? PubMed: Jaaskelainen 2004 - - - - - - - - - 1 Johan den Dunnen
-/. - c.1238T>C r.(?) p.(Met413Thr) Unknown - benign g.169521853A>G g.169552615A>G - - F5_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1242A>G r.(?) p.(Lys414=) Unknown - benign g.169521849T>C - - - F5_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.1242G>A r.(?) p.(Lys414=) Unknown - VUS g.169521849C>T - - - F5_000111 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Chegeni 2007 - - Germline - - - - - DNA SEQ - - ? 16542711-Pat? PubMed: Chegeni 2007 - - - - - - - - - 1 Johan den Dunnen
+/. 8 c.1258G>T r.(?) p.(Gly420Cys) Unknown - pathogenic g.169521833C>A g.169552595C>A - - F5_000110 - PubMed: Fu 2003 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 14511309-Pat? PubMed: Fu 2003 - - - - - - - - - 1 Johan den Dunnen
+/. 9 c.1321C>T r.(?) p.(Arg441Cys) Unknown - pathogenic g.169519953G>A g.169550715G>A - - F5_000109 - PubMed: Delev 2009 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 19486170-Pat? PubMed: Delev 2009 - - - - - - - - - 1 Johan den Dunnen
+/. 9 c.1334T>C r.(?) p.(Ile445Thr) Unknown - pathogenic g.169519940A>G g.169550702A>G - - F5_000108 - PubMed: Kling 2006 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 16420587-Pat? PubMed: Kling 2006 - - - - - - - - - 1 Johan den Dunnen
-/. - c.1380C>T r.(?) p.(Asn460=) Unknown - benign g.169519894G>A g.169550656G>A - - F5_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1426C>T r.(?) p.(Gln476*) Unknown - pathogenic g.169519224G>A g.169549986G>A - - F5_000107 - PubMed: Delev 2009 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 19486170-Pat? PubMed: Delev 2009 - - - - - - - - - 1 Johan den Dunnen
+/. 10 c.1498T>G r.(?) p.(Cys500Gly) Unknown - pathogenic g.169519152A>C g.169549914A>C - - F5_000106 - PubMed: Montefusco 2003 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 12816860-Pat? PubMed: Montefusco 2003 - - - - - - - - - 1 Johan den Dunnen
+/. 10 c.1516_1518del r.(?) p.(Tyr506del) Unknown - pathogenic g.169519135_169519137del g.169549897_169549899del 1516_1518delTAC - F5_000105 - PubMed: Jones 2007 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 17269939-Pat? PubMed: Jones 2007 - - - - - - - - - 1 Johan den Dunnen
?/. 10 c.1538G>A r.(?) p.(Arg513Lys) Unknown - VUS g.169519112C>T g.169549874C>T - - F5_000104 - PubMed: Hiyoshi 1998 - rs6020 Germline - - - - - DNA SEQ - - ? 9798997-Pat? PubMed: Hiyoshi 1998 - - - - - - - - - 1 Johan den Dunnen
-/. - c.1538G>A r.(?) p.(Arg513Lys) Unknown - benign g.169519112C>T - - - F5_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1561G>A r.(?) p.(Gly521Arg) Unknown - pathogenic g.169519089C>T g.169549851C>T - - F5_000103 - PubMed: Kovács 2009 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 19806267-Pat? PubMed: Kovács 2009 - - - - - - - - - 1 Johan den Dunnen
+/. 10 c.1599del r.(?) p.(Arg533Serfs*41) Unknown - pathogenic g.169519052del g.169549814del 1599delG - F5_000102 - PubMed: Schrijver 2005 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 15735818-Pat? PubMed: Schrijver 2005 - - - - - - - - - 1 Johan den Dunnen
+/. 10 c.1600C>T r.(?) p.(Gln534*) Unknown - pathogenic g.169519050G>A g.169549812G>A - - F5_000101 - Kitzis 1999, HumGenet online - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA ? Kitzis 1999, HumGenet online - - - - - - - - - 1 Johan den Dunnen
+/. 10 c.1601G>A r.1601g>a p.Arg534Gln Parent #1 - pathogenic (!) g.169519049T>C g.169549811C>T 1691G>A (Arg506Gln) - F5_000002 genome reference has variant (Favtor V Leiden) PubMed: Bertina 1994, Journal: Bertina 1994, OMIM:var0001 - rs6025 Germline yes - MnlI- - - DNA, RNA PCRdig, SEQ - - THPH2 - PubMed: Bertina 1994, Journal: Bertina 1994 4-generation family, 13 affecteds (4F, 9M) - - Netherlands - - - - - 13 Johan den Dunnen
+/. 10 c.1601G>A r.(?) p.(Arg534Gln) Parent #1 - pathogenic (!) g.169519049= g.169549811C>T 1691G>A (Arg506Gln) - F5_000002 - PubMed: Bertina 1994, Journal: Bertina 1994, OMIM:var0001 - - Germline yes 50/64 cases MnlI- - - DNA PCRdig - - THPH2 - PubMed: Bertina 1994, Journal: Bertina 1994 64 APC resistant patients of 301 with first episode deep vein thrombosis - no Netherlands - - - - - 64 Johan den Dunnen
+/. 10 c.1601G>A r.(?) p.(Arg534Gln) Both (homozygous) - pathogenic (!) g.169519049= g.169549811C>T 1691G>A (Arg506Gln) - F5_000002 - PubMed: Bertina 1994, Journal: Bertina 1994, OMIM:var0001 - - Germline yes 6/64 cases MnlI- - - DNA PCRdig - - THPH2 - PubMed: Bertina 1994, Journal: Bertina 1994 64 APC resistant patients of 301 with first episode deep vein thrombosis - no Netherlands - - - - - 64 Johan den Dunnen
+/. 10 c.1601G>A r.(?) p.(Arg534Gln) Parent #1 - pathogenic (!) g.169519049= g.169549811C>T 1691G>A (Arg506Gln) - F5_000002 - PubMed: Bertina 1994, Journal: Bertina 1994, OMIM:var0001 - rs6025 Germline - 3/64 controls MnlI- - - DNA PCR - - ? - PubMed: Bertina 1994, Journal: Bertina 1994 64 controls - no Netherlands - - - - - 64 Johan den Dunnen
+/. - c.1601G>A r.(?) p.(Arg534Gln) Both (homozygous) - pathogenic (!) g.169519049= g.169549811C>T - - F5_000002 - - - rs6025 Germline - - - - - DNA SEQ - - Healthy/Control - - - - - Germany - - - - - 1 Andreas Laner
+?/. - c.1601G>A r.(?) p.(Arg534Gln) Unknown - likely pathogenic g.169519049C>T g.169549811C>T Factor V Leiden codon 506 arginine (R) to glutamine (Q) (CGA-CAA) - F5_000002 no nucleotide annotation, extrapolated from protein, sequence and databases; by sequence, affected nucleotide is 534, in hg19 error CAA marked as reference sequence, while it should be CGA; heterozygous PubMed: Shastry 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 patient I-1 PubMed: Shastry 2004 proband F - - - - - - - 1 LOVD
+?/. - c.1601G>A r.(?) p.(Arg534Gln) Unknown - likely pathogenic g.169519049C>T g.169549811C>T Factor V Leiden codon 506 arginine (R) to glutamine (Q) (CGA-CAA) - F5_000002 no nucleotide annotation, extrapolated from protein, sequence and databases; by sequence, affected nucleotide is 534, in hg19 error CAA marked as reference sequence, while it should be CGA; heterozygous PubMed: Shastry 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 patient II-2 PubMed: Shastry 2004 proband's daughter 2 F - - - - - - - 1 LOVD
+?/. - c.1601G>A r.(?) p.(Arg534Gln) Unknown - likely pathogenic g.169519049C>T g.169549811C>T Factor V Leiden codon 506 arginine (R) to glutamine (Q) (CGA-CAA) - F5_000002 no nucleotide annotation, extrapolated from protein, sequence and databases; by sequence, affected nucleotide is 534, in hg19 error CAA marked as reference sequence, while it should be CGA; heterozygous PubMed: Shastry 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 patient II-3 PubMed: Shastry 2004 proband's daughter 3 F - - - - - - - 1 LOVD
+?/. - c.1601G>A r.(?) p.(Arg534Gln) Unknown - likely pathogenic g.169519049C>T g.169549811C>T Factor V Leiden codon 506 arginine (R) to glutamine (Q) (CGA-CAA) - F5_000002 no nucleotide annotation, extrapolated from protein, sequence and databases; by sequence, affected nucleotide is 534, in hg19 error CAA marked as reference sequence, while it should be CGA; heterozygous PubMed: Shastry 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 patient II-4 PubMed: Shastry 2004 proband's son M - - - - - - - 1 LOVD
+?/. - c.1601G>A r.(?) p.(Arg534Gln) Unknown - likely pathogenic g.169519049C>T g.169549811C>T Factor V Leiden codon 506 arginine (R) to glutamine (Q) (CGA-CAA) - F5_000002 no nucleotide annotation, extrapolated from protein, sequence and databases; by sequence, affected nucleotide is 534, in hg19 error CAA marked as reference sequence, while it should be CGA; heterozygous PubMed: Shastry 2004 - - Germline yes - - - - DNA SEQ blood - EVR1 patient III-2 PubMed: Shastry 2004 proband's son's son 2 M - - - - - - - 1 LOVD
+/. 11 c.1633C>T r.(?) p.(Gln545*) Unknown - pathogenic g.169515809G>A g.169546571G>A - - F5_000100 - PubMed: Delev 2009 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 19486170-Pat? PubMed: Delev 2009 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1654G>C r.(?) p.(Asp552His) Unknown - pathogenic g.169515788C>G g.169546550C>G - - F5_000099 - PubMed: Duckers 2010 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 19861681-Pat? PubMed: Duckers 2010 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1673A>C r.(?) p.(Tyr558Ser) Unknown - pathogenic g.169515769T>G g.169546531T>G - - F5_000098 - PubMed: Xie 2001 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 11758222-Pat? PubMed: Xie 2001 - - - - - - - - - 1 Johan den Dunnen
-/. - c.1716G>A r.(?) p.(Glu572=) Unknown - benign g.169515726C>T g.169546488C>T - - F5_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1762+4A>G r.spl? p.? Unknown - likely pathogenic g.169515676T>C - - - F5_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1837T>C r.(?) p.(Cys613Arg) Unknown - VUS g.169513672A>G g.169544434A>G F5(NM_000130.4):c.1837T>C (p.C613R) - F5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1837T>C r.(?) p.(Cys613Arg) Unknown - pathogenic g.169513672A>G g.169544434A>G - - F5_000017 - PubMed: van Wijk 2001 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 11435304-Pat? PubMed: van Wijk 2001 - - - - - - - - - 1 Johan den Dunnen
+/. 12 c.1852dup r.(?) p.(Gln618Profs*3) Unknown - pathogenic g.169513659dup g.169544421dup 1852dupC - F5_000097 - PubMed: Yamakage 2006 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 16476093-Pat? PubMed: Yamakage 2006 - - - - - - - - - 1 Johan den Dunnen
-/. - c.1926C>A r.(?) p.(Thr642=) Unknown - benign g.169513583G>T g.169544345G>T - - F5_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1976G>A r.(?) p.(Gly659Glu) Unknown - VUS g.169512352C>T g.169543114C>T - - F5_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.2032A>G r.(?) p.(Lys678Glu) Unknown - pathogenic g.169512296T>C g.169543058T>C - - F5_000096 - PubMed: Kanaji 2009 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 19052695-Pat? PubMed: Kanaji 2009 - - - - - - - - - 1 Johan den Dunnen
+/. 13 c.2051G>A r.(?) p.(Cys684Tyr) Unknown - pathogenic g.169512277C>T g.169543039C>T - - F5_000095 - PubMed: Cao 2008 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 18788609-Pat? PubMed: Cao 2008 - - - - - - - - - 1 Johan den Dunnen
+/. 13 c.2082G>C r.(?) p.(Glu694Asp) Unknown - pathogenic g.169512246C>G g.169543008C>G - - F5_000094 - PubMed: Cai 2010 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 20304467-Pat? PubMed: Cai 2010 - - - - - - - - - 1 Johan den Dunnen
+/. 13 c.2149_2150del r.(?) p.(Asp717*) Unknown - pathogenic g.169512179_169512180del g.169542941_169542942del 2149_2150delGA - F5_000093 - PubMed: Fu 2004 - - Germline - - - - - DNA SEQ - - PARAHEMOPHILIA 15086325-Pat? PubMed: Fu 2004 - - - - - - - - - 1 Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.

This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.