All variants in the F10 gene

Information The variants shown are described using the NM_000504.3 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/. - c.-4463G>A r.(?) p.(=) - benign g.113772707G>A g.113118393G>A F7(NM_000131.4):c.806-20G>A - F7_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.-4463G>A r.(?) p.(=) - benign g.113772707G>A g.113118393G>A F7(NM_000131.4):c.806-20G>A - F7_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.-4398G>A r.(?) p.(=) - likely benign g.113772772G>A g.113118458G>A F7(NM_000131.4):c.851G>A (p.(Arg284Gln)) - F7_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.-4338C>T r.(?) p.(=) - pathogenic g.113772832C>T g.113118518C>T - - F7_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.-4315G>A r.(?) p.(=) - pathogenic g.113772855G>A g.113118541G>A - - F7_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-4273C>T r.(?) p.(=) - VUS g.113772897C>T g.113118583C>T - - F7_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.-4222G>A r.(?) p.(=) - pathogenic g.113772948G>A g.113118634G>A - - F7_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.-4221G>C r.(?) p.(=) - VUS g.113772949G>C g.113118635G>C - - F7_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.-4201C>T r.(?) p.(=) - likely pathogenic g.113772969C>T - - - F7_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-4200G>A r.(?) p.(=) - likely benign g.113772970G>A g.113118656G>A - - F7_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.-4188C>T r.(?) p.(=) - pathogenic g.113772982C>T g.113118668C>T - - F7_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-4175G>A r.(?) p.(=) - VUS g.113772995G>A - - - F7_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.-4158G>A r.(?) p.(=) - pathogenic g.113773012G>A g.113118698G>A - - F7_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.-4140G>T r.(?) p.(=) - pathogenic g.113773030G>T g.113118716G>T - - F7_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.-4078G>A r.(?) p.(=) - likely pathogenic g.113773092G>A - - - F7_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.-4038G>A r.(?) p.(=) - likely pathogenic g.113773132G>A g.113118818G>A - - F7_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.-4038G>C r.(?) p.(=) - likely pathogenic g.113773132G>C g.113118818G>C - - F7_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-4011G>A r.(?) p.(=) - benign g.113773159G>A g.113118845G>A F7(NM_000131.4):c.1238G>A (p.R413Q) - F7_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.-4011G>A r.(?) p.(=) - benign g.113773159G>A g.113118845G>A F7(NM_000131.4):c.1238G>A (p.R413Q) - F7_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.-3993C>T r.(?) p.(=) - pathogenic g.113773177C>T g.113118863C>T - - F7_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.-3964G>A r.(?) p.(=) - likely pathogenic g.113773206G>A - - - F7_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.-3921A>G r.(?) p.(=) - likely pathogenic g.113773249A>G g.113118935A>G - - F7_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.231+5G>C r.spl? p.? - VUS g.113783931G>C - - - F10_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.232-17T>C r.(=) p.(=) - benign g.113792754T>C g.113138440T>C F10(NM_000504.3):c.232-17T>C - F10_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.232-17T>C r.(=) p.(=) - benign g.113792754T>C g.113138440T>C F10(NM_000504.3):c.232-17T>C - F10_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.329G>A r.(?) p.(Cys110Tyr) - likely pathogenic g.113793743G>A g.113139429G>A - - F10_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.424G>A r.(?) p.(Glu142Lys) - VUS g.113795286G>A - F10(NM_000504.3):c.424G>A (p.E142K) - F10_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.424G>A r.(?) p.(Glu142Lys) - VUS g.113795286G>A - F10(NM_000504.3):c.424G>A (p.E142K) - F10_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.460G>A r.(?) p.(Gly154Arg) - pathogenic g.113795322G>A - - - F10_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.481G>A r.(?) p.(Gly161Ser) - VUS g.113795343G>A - F10(NM_000504.3):c.481G>A (p.G161S) - F10_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.785G>A r.(?) p.(Gly262Asp) - pathogenic g.113801730G>A g.113147416G>A - - F10_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.792C>T r.(?) p.(Thr264=) - benign g.113801737C>T g.113147423C>T F10(NM_000504.3):c.792C>T (p.T264=) - F10_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.792C>T r.(?) p.(Thr264=) - benign g.113801737C>T g.113147423C>T F10(NM_000504.3):c.792C>T (p.T264=) - F10_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.979C>T r.(?) p.(Arg327Trp) - likely pathogenic g.113803343C>T - - - F10_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1096C>T r.(?) p.(Arg366Cys) - VUS g.113803460C>T g.113149146C>T - - F10_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1151A>G r.(?) p.(Tyr384Cys) - pathogenic g.113803515A>G - - - F10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1222G>A r.(?) p.(Asp408Asn) - VUS g.113803586G>A - - - F10_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1348G>A r.(?) p.(Gly450Arg) - likely pathogenic g.113803712G>A - - - F10_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1466dup r.(?) p.(*489Trpext*?) - VUS g.113803830dup - - - F10_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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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.