All variants in the FCN3 gene

Information The variants shown are described using the NM_003665.2 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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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.9A>G r.(?) p.(Leu3=) - likely benign g.27701301T>C - FCN3(NM_003665.2):c.9A>G (p.L3=) - CD164L2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.9A>G r.(?) p.(Leu3=) - likely benign g.27701301T>C - FCN3(NM_003665.2):c.9A>G (p.L3=) - CD164L2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.74_77dup r.(?) p.(His26GlnfsTer52) - pathogenic g.27701233_27701236dup - FCN3(NM_003665.4):c.74_77dupAACA (p.H26Qfs*52) - CD164L2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.232+1G>A r.spl? p.? - VUS g.27700455C>T g.27373964C>T FCN3(NM_003665.2):c.232+1G>A, FCN3(NM_003665.4):c.232+1G>A - FCN3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.232+1G>A r.spl? p.? - VUS g.27700455C>T - FCN3(NM_003665.2):c.232+1G>A, FCN3(NM_003665.4):c.232+1G>A - FCN3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.232+1G>A r.spl? p.? - VUS g.27700455C>T - FCN3(NM_003665.2):c.232+1G>A, FCN3(NM_003665.4):c.232+1G>A - FCN3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.232+3G>A r.spl? p.? - likely benign g.27700453C>T - FCN3(NM_003665.2):c.232+3G>A - FCN3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.266-7T>C r.(=) p.(=) - likely benign g.27699761A>G g.27373270A>G FCN3(NM_003665.2):c.266-7T>C - FCN3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.266-7T>C r.(=) p.(=) - likely benign g.27699761A>G g.27373270A>G FCN3(NM_003665.2):c.266-7T>C - FCN3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.281G>A r.(?) p.(Arg94Gln) - likely benign g.27699739C>T - FCN3(NM_003665.2):c.281G>A (p.R94Q) - FCN3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.312C>T r.(?) p.(Ser104=) - likely benign g.27699708G>A - FCN3(NM_003665.2):c.312C>T (p.S104=) - FCN3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.349del r.(?) p.(Leu117SerfsTer65) - benign g.27699673del g.27373182del FCN3(NM_003665.2):c.349delC (p.L117Sfs*65), FCN3(NM_003665.4):c.349delC (p.L117Sfs*65) - FCN3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.349del r.(?) p.(Leu117SerfsTer65) - VUS g.27699673del g.27373182del FCN3(NM_003665.2):c.349delC (p.L117Sfs*65), FCN3(NM_003665.4):c.349delC (p.L117Sfs*65) - FCN3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.349del r.(?) p.(Leu117Serfs*65) - likely pathogenic g.27699673del g.27373182del FCN3(NM_003665.2):c.349delC(p.L117Sfs*65)/c.498G>C(p.E166D) - FCN3_000003 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 110 - - - LOVD
-?/. - c.376G>A r.(?) p.(Glu126Lys) - likely benign g.27699644C>T g.27373153C>T FCN3(NM_003665.2):c.376G>A (p.E126K) - FCN3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.394-10_394-9del r.(=) p.(=) - likely benign g.27697477_27697478del - FCN3(NM_003665.2):c.394-10_394-9delCC - FCN3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.498G>C r.(?) p.(Glu166Asp) - likely benign g.27697359C>G g.27370868C>G FCN3(NM_003665.2):c.498G>C (p.E166D) - FCN3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.498G>C r.(?) p.(Glu166Asp) - benign g.27697359C>G g.27370868C>G FCN3(NM_003665.2):c.498G>C (p.E166D) - FCN3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.498G>C r.(?) p.(Glu166Asp) - likely pathogenic g.27697359C>G g.27370868C>G FCN3(NM_003665.2):c.349delC(p.L117Sfs*65)/c.498G>C(p.E166D) - FCN3_000002 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 110 - - - LOVD
-?/. - c.564T>C r.(?) p.(Gly188=) - likely benign g.27697181A>G - FCN3(NM_003665.2):c.564T>C (p.G188=) - FCN3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.596G>A r.(?) p.(Arg199His) - VUS g.27697149C>T - FCN3(NM_003665.4):c.596G>A (p.R199H) - FCN3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.750C>T r.(?) p.(His250=) - likely benign g.27695877G>A g.27369386G>A FCN3(NM_003665.2):c.750C>T (p.H250=) - FCN3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.750C>T r.(?) p.(His250=) - likely benign g.27695877G>A - FCN3(NM_003665.2):c.750C>T (p.H250=) - FCN3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.764A>G r.(?) p.(Tyr255Cys) - VUS g.27695863T>C g.27369372T>C FCN3(NM_003665.2):c.764A>G (p.Y255C), FCN3(NM_003665.4):c.764A>G (p.Y255C) - FCN3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.764A>G r.(?) p.(Tyr255Cys) - VUS g.27695863T>C - FCN3(NM_003665.2):c.764A>G (p.Y255C), FCN3(NM_003665.4):c.764A>G (p.Y255C) - FCN3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.778C>T r.(?) p.(Arg260*) - VUS g.27695849G>A - FCN3(NM_003665.2):c.778C>T (p.R260*) - FCN3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.883C>T r.(?) p.(Arg295Trp) - VUS g.27695744G>A g.27369253G>A FCN3(NM_003665.2):c.883C>T (p.R295W) - FCN3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*2708G>C r.(=) p.(=) - likely benign g.27693019C>G g.27366528C>G MAP3K6(NM_004672.3):c.70G>C (p.(Ala24Pro)) - FCN3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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