All variants in the FBXO7 gene

Information The variants shown are described using the NM_001033024.1 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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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.-295C>T r.(?) p.(=) - pathogenic g.32871054C>T g.32475067C>T FBXO7(NM_012179.3):c.65C>T (p.T22M) - FBXO7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.-249C>T r.(?) p.(=) - likely benign g.32871100C>T g.32475113C>T FBXO7(NM_012179.3):c.111C>T (p.T37=) - FBXO7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.-229G>A r.(?) p.(=) - likely benign g.32871120G>A g.32475133G>A FBXO7(NM_012179.3):c.122+9G>A - FBXO7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.-229G>A r.(?) p.(=) - likely benign g.32871120G>A g.32475133G>A FBXO7(NM_012179.3):c.122+9G>A - FBXO7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.8G>A r.(?) p.(Arg3Gln) - likely benign g.32871356G>A g.32475369G>A FBXO7(NM_001033024.1):c.8G>A (p.R3Q) - FBXO7_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.17G>A r.(?) p.(Gly6Glu) - benign g.32871365G>A g.32475378G>A FBXO7(NM_001033024.1):c.17G>A (p.G6E) - FBXO7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.35T>G r.(?) p.(Leu12Arg) - benign g.32871383T>G g.32475396T>G FBXO7(NM_001033024.1):c.35T>G (p.L12R) - FBXO7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.35T>G r.(?) p.(Leu12Arg) - benign g.32871383T>G g.32475396T>G FBXO7(NM_001033024.1):c.35T>G (p.L12R) - FBXO7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. - c.38-85del r.(=) p.(=) - pathogenic g.32875035del g.32479048del FBXO7(NM_012179.3):c.190delG (p.A64Lfs*10) - FBXO7_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.108G>A r.(?) p.(Met36Ile) - benign g.32875190G>A g.32479203G>A FBXO7(NM_001257990.1):c.3G>A (p.M1?), FBXO7(NM_012179.3):c.345G>A (p.M115I) - FBXO7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.108G>A r.(?) p.(Met36Ile) - benign g.32875190G>A g.32479203G>A FBXO7(NM_001257990.1):c.3G>A (p.M1?), FBXO7(NM_012179.3):c.345G>A (p.M115I) - FBXO7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.108G>A r.(?) p.(Met36Ile) - benign g.32875190G>A g.32479203G>A FBXO7(NM_001257990.1):c.3G>A (p.M1?), FBXO7(NM_012179.3):c.345G>A (p.M115I) - FBXO7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.303A>G r.(?) p.(Pro101=) - likely benign g.32880006A>G g.32484019A>G FBXO7(NM_012179.3):c.540A>G (p.P180=) - FBXO7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.303A>G r.(?) p.(Pro101=) - benign g.32880006A>G g.32484019A>G FBXO7(NM_012179.3):c.540A>G (p.P180=) - FBXO7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.303A>G r.(=) p.(=) - likely benign g.32880006A>G g.32484019A>G - - FBXO7_000007 50 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41311141 Germline - 50/2795 individuals - 0 - Mohammed Faruq
-?/. - c.303A>G r.(=) p.(=) - likely benign g.32880006A>G g.32484019A>G - - FBXO7_000007 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41311141 Germline - 1/2795 individuals - 0 - Mohammed Faruq
?/. - c.415G>A r.(?) p.(Glu139Lys) - VUS g.32881061G>A g.32485074G>A FBXO7(NM_012179.3):c.652G>A (p.E218K) - FBXO7_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.424G>C r.(?) p.(Ala142Pro) - VUS g.32881070G>C - FBXO7(NM_012179.3):c.661G>C (p.A221P) - FBXO7_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.456C>T r.(?) p.(Ser152=) - likely benign g.32881102C>T g.32485115C>T FBXO7(NM_012179.3):c.693C>T (p.S231=) - FBXO7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.456C>T r.(?) p.(Ser152=) - likely benign g.32881102C>T g.32485115C>T FBXO7(NM_012179.3):c.693C>T (p.S231=) - FBXO7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.456C>T r.(?) p.(Ser152=) - likely benign g.32881102C>T g.32485115C>T FBXO7(NM_012179.3):c.693C>T (p.S231=) - FBXO7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.550+1G>A r.spl? p.? - likely pathogenic g.32881197G>A g.32485210G>A - - FBXO7_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.634+3A>G r.spl? p.? - VUS g.32883818A>G - FBXO7(NM_012179.3):c.871+3A>G - FBXO7_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.655T>G r.(?) p.(Tyr219Asp) - VUS g.32887093T>G g.32491106T>G - - FBXO7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.675C>T r.(?) p.(Leu225=) - likely benign g.32887113C>T g.32491126C>T FBXO7(NM_012179.3):c.912C>T (p.L304=) - FBXO7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.712C>T r.(?) p.(Leu238=) - benign g.32887150C>T g.32491163C>T FBXO7(NM_012179.3):c.949C>T (p.L317=) - FBXO7_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.712C>T r.(?) p.(Leu238=) - benign g.32887150C>T g.32491163C>T FBXO7(NM_012179.3):c.949C>T (p.L317=) - FBXO7_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.712C>T r.(?) p.(Leu238=) - benign g.32887150C>T g.32491163C>T FBXO7(NM_012179.3):c.949C>T (p.L317=) - FBXO7_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.729A>G r.(?) p.(Gln243=) - VUS g.32887167A>G g.32491180A>G FBXO7(NM_012179.3):c.966A>G (p.Q322=) - FBXO7_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.731-3T>G r.spl? p.? - VUS g.32889089T>G g.32493102T>G FBXO7(NM_012179.3):c.968-3T>G - FBXO7_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.749T>C r.(?) p.(Val250Ala) - likely benign g.32889110T>C - FBXO7(NM_012179.3):c.986T>C (p.V329A) - FBXO7_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.817G>A r.(?) p.(Val273Ile) - likely benign g.32889178G>A g.32493191G>A FBXO7(NM_012179.3):c.1054G>A (p.V352I) - FBXO7_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.841C>T r.(?) p.(Arg281Cys) - VUS g.32889202C>T g.32493215C>T FBXO7(NM_001033024.1):c.841C>T (p.(Arg281Cys)) - FBXO7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.842G>A r.(?) p.(Arg281His) - likely benign g.32889203G>A - FBXO7(NM_012179.3):c.1079G>A (p.R360H) - FBXO7_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.845A>G r.(?) p.(Asp282Gly) - VUS g.32889206A>G - FBXO7(NM_012179.3):c.1082A>G (p.D361G) - FBXO7_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.888A>G r.(?) p.(Leu296=) - benign g.32889249A>G g.32493262A>G FBXO7(NM_012179.3):c.1125A>G (p.L375=) - FBXO7_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.907+1G>T r.spl? p.? - pathogenic g.32889269G>T g.32493282G>T FBXO7(NM_012179.3):c.1144+1G>T - FBXO7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.907+9C>T r.(=) p.(=) - likely benign g.32889277C>T g.32493290C>T FBXO7(NM_012179.3):c.1144+9C>T - FBXO7_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.907+9C>T r.(=) p.(=) - likely benign g.32889277C>T g.32493290C>T FBXO7(NM_012179.3):c.1144+9C>T - FBXO7_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1204C>T r.(?) p.(Arg402Cys) - VUS g.32894389C>T g.32498402C>T FBXO7(NM_012179.3):c.1441C>T (p.R481C) - FBXO7_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1216G>A r.(?) p.(Val406Ile) - likely benign g.32894401G>A - FBXO7(NM_012179.3):c.1453G>A (p.V485I) - FBXO7_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1255C>T r.(?) p.(Arg419Ter) - pathogenic g.32894440C>T g.32498453C>T FBXO7(NM_012179.3):c.1492C>T (p.R498*) - FBXO7_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1268A>G r.(?) p.(Asn423Ser) - likely benign g.32894453A>G g.32498466A>G FBXO7(NM_001033024.1):c.1268A>G (p.(Asn423Ser)), FBXO7(NM_012179.3):c.1505A>G (p.N502S) - FBXO7_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1268A>G r.(?) p.(Asn423Ser) - likely benign g.32894453A>G g.32498466A>G FBXO7(NM_001033024.1):c.1268A>G (p.(Asn423Ser)), FBXO7(NM_012179.3):c.1505A>G (p.N502S) - FBXO7_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1309G>C r.(?) p.(Asp437His) - VUS g.32894494G>C g.32498507G>C FBXO7(NM_012179.3):c.1546G>C (p.D516H) - FBXO7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.1309G>C r.(?) p.(Asp437His) - VUS g.32894494G>C g.32498507G>C FBXO7(NM_012179.3):c.1546G>C (p.D516H) - FBXO7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1309G>T r.(?) p.(Asp437Tyr) - VUS g.32894494G>T g.32498507G>T FBXO7(NM_012179.3):c.1546G>T (p.D516Y) - FBXO7_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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