Unique variants in gene FOXN1

Information The variants shown are described using the NM_003593.2 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
?/. 1 - c.83T>C VUS r.(?) p.(Met28Thr) g.26851070T>C - FOXN1(NM_003593.2):c.83T>C (p.M28T) - FOXN1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., ?/. 2 - c.106T>C likely benign, VUS r.(?) p.(Ser36Pro) g.26851093T>C - FOXN1(NM_003593.2):c.106T>C (p.(Ser36Pro), p.S36P) - FOXN1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
-/. 1 - c.124-20G>A benign r.(=) p.(=) g.26851501G>A - FOXN1(NM_003593.2):c.124-20G>A - FOXN1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.546C>T likely benign r.(?) p.(=) g.26851943C>T - FOXN1(NM_003593.2):c.546C>T (p.N182=) - FOXN1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 2 c.562del - r.(?) p.(Ser188Alafs*114) g.26851959del - 562delA - FOXN1_000004 - PubMed: Chou 2014 - - Germline - - - - - Johan den Dunnen
+/. 2 4 c.763C>T - r.(?) p.(Arg255*) g.26856175C>T - 792C>T (R255X), R255X - FOXN1_000002 - PubMed: Frank 1999, PubMed: Markert 2011 - - Germline yes - - - - Johan den Dunnen
+?/. 1 - c.831-2A>G likely pathogenic r.spl? p.? g.26857765A>G - - - FOXN1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 5 c.880G>A - r.(?) p.(Val294Ile) g.26857816G>A - NM_003593.2:909G>A (V294I) - FOXN1_000001 - - - - Germline yes - - - - Sinem Firtina
?/. 1 - c.889A>T VUS r.(?) p.(Ile297Phe) g.26857825A>T - FOXN1(NM_003593.2):c.889A>T (p.I297F) - FOXN1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.906G>A likely benign r.(?) p.(=) g.26857842G>A - FOXN1(NM_003593.2):c.906G>A (p.T302=) - FOXN1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 6 c.958C>T - r.(?) p.(Arg320Trp) g.26861379C>T - C987T (R320W) - FOXN1_000003 - PubMed: Markert 2011 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1184C>T likely benign r.(?) p.(Pro395Leu) g.26861773C>T - FOXN1(NM_003593.2):c.1184C>T (p.P395L) - FOXN1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1784G>T likely benign r.(?) p.(Gly595Val) g.26864291G>T - FOXN1(NM_003593.2):c.1784G>T (p.G595V) - FOXN1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1812C>A likely benign r.(?) p.(=) g.26864319C>A - FOXN1(NM_003593.2):c.1812C>A (p.G604=) - FOXN1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1932C>T likely benign r.(?) p.(=) g.26864439C>T - FOXN1(NM_003593.2):c.1932C>T (p.P644=) - FOXN1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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