All variants in the FOXN1 gene

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

54 entries on 1 page. Showing entries 1 - 54.
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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.17C>T r.(?) p.(Pro6Leu) - likely benign g.26851004C>T - FOXN1(NM_003593.2):c.17C>T (p.(Pro6Leu)) - FOXN1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.41C>T r.(?) p.(Pro14Leu) - VUS g.26851028C>T - FOXN1(NM_003593.3):c.41C>T (p.P14L) - FOXN1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.50C>G r.(?) p.(Thr17Ser) - likely benign g.26851037C>G - FOXN1(NM_003593.2):c.50C>G (p.T17S) - FOXN1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.64G>A r.(?) p.(Glu22Lys) - VUS g.26851051G>A - - - FOXN1_000024 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
?/. - c.83T>C r.(?) p.(Met28Thr) - VUS g.26851070T>C g.28524052T>C FOXN1(NM_003593.2):c.83T>C (p.M28T, p.(Met28Thr)) - FOXN1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.83T>C r.(?) p.(Met28Thr) - VUS g.26851070T>C - FOXN1(NM_003593.2):c.83T>C (p.M28T, p.(Met28Thr)) - FOXN1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.106T>C r.(?) p.(Ser36Pro) - VUS g.26851093T>C g.28524075T>C FOXN1(NM_003593.2):c.106T>C (p.(Ser36Pro), p.S36P) - FOXN1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.106T>C r.(?) p.(Ser36Pro) - likely benign g.26851093T>C g.28524075T>C FOXN1(NM_003593.2):c.106T>C (p.(Ser36Pro), p.S36P) - FOXN1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.114C>T r.(?) p.(Ala38=) - likely benign g.26851101C>T - FOXN1(NM_003593.2):c.114C>T (p.A38=) - FOXN1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.123+11G>A r.(=) p.(=) - likely benign g.26851121G>A - FOXN1(NM_003593.2):c.123+11G>A - FOXN1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.124-20G>A r.(=) p.(=) - benign g.26851501G>A g.28524483G>A FOXN1(NM_003593.3):c.124-20G>A - FOXN1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.143del r.(?) p.(Cys48Serfs*254) - pathogenic g.26851540del - - - FOXN1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.162C>T r.(?) p.(Asp54=) - likely benign g.26851559C>T - FOXN1(NM_003593.2):c.162C>T (p.D54=) - FOXN1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.279C>G r.(?) p.(Leu93=) - likely benign g.26851676C>G - FOXN1(NM_003593.2):c.279C>G (p.L93=) - FOXN1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.311T>C r.(?) p.(Phe104Ser) - VUS g.26851708T>C - FOXN1(NM_003593.2):c.311T>C (p.F104S) - FOXN1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.478G>A r.(?) p.(Glu160Lys) - VUS g.26851875G>A - FOXN1(NM_003593.2):c.478G>A (p.E160K) - FOXN1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.497C>T r.(?) p.(Ala166Val) - likely benign g.26851894C>T - FOXN1(NM_003593.2):c.497C>T (p.A166V) - FOXN1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.546C>T r.(?) p.(Asn182=) - likely benign g.26851943C>T g.28524925C>T FOXN1(NM_003593.2):c.546C>T (p.N182=) - FOXN1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 c.562del r.(?) p.(Ser188Alafs*114) - pathogenic g.26851959del g.28524941del 562delA - FOXN1_000004 - PubMed: Chou 2014 - - Germline - - - - - Johan den Dunnen
?/. - c.724C>T r.(?) p.(Pro242Ser) - VUS g.26856136C>T - FOXN1(NM_001369369.1):c.724C>T (p.(Pro242Ser)), FOXN1(NM_003593.2):c.724C>T (p.P242S) - FOXN1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.724C>T r.(?) p.(Pro242Ser) - likely benign g.26856136C>T - FOXN1(NM_001369369.1):c.724C>T (p.(Pro242Ser)), FOXN1(NM_003593.2):c.724C>T (p.P242S) - FOXN1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.724C>T r.(?) p.(Pro242Ser) - VUS g.26856136C>T - FOXN1(NM_001369369.1):c.724C>T (p.(Pro242Ser)), FOXN1(NM_003593.2):c.724C>T (p.P242S) - FOXN1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.746C>T r.(?) p.(Ser249Leu) - VUS g.26856158C>T - FOXN1(NM_001369369.1):c.746C>T (p.(Ser249Leu)) - FOXN1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 4 c.763C>T r.(?) p.(Arg255*) - pathogenic g.26856175C>T g.28529157C>T 792C>T (R255X) - FOXN1_000002 - PubMed: Frank 1999 - - Germline yes - - - - Johan den Dunnen
+/. 4 c.763C>T r.(?) p.(Arg255*) - pathogenic g.26856175C>T g.28529157C>T R255X - FOXN1_000002 - PubMed: Markert 2011 - - Germline - - - - - Johan den Dunnen
+?/. - c.831-2A>G r.spl? p.? - likely pathogenic g.26857765A>G g.28530747A>G - - FOXN1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.852T>C r.(?) p.(Leu284=) - benign g.26857788T>C g.28530770T>C - - FOXN1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 5 c.880G>A r.(?) p.(Val294Ile) - pathogenic g.26857816G>A g.28530798G>A NM_003593.2:909G>A (V294I) - FOXN1_000001 - - - - Germline yes - - - - Sinem Firtina
?/. - c.889A>T r.(?) p.(Ile297Phe) - VUS g.26857825A>T g.28530807A>T FOXN1(NM_003593.2):c.889A>T (p.I297F) - FOXN1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.905C>T r.(?) p.(Thr302Met) - VUS g.26857841C>T - - - FOXN1_000025 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
-?/. - c.906G>A r.(?) p.(Thr302=) - likely benign g.26857842G>A g.28530824G>A FOXN1(NM_003593.2):c.906G>A (p.T302=) - FOXN1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 6 c.958C>T r.(?) p.(Arg320Trp) - pathogenic g.26861379C>T g.28534361C>T C987T (R320W) - FOXN1_000003 - PubMed: Markert 2011 - - Germline - - - - - Johan den Dunnen
?/. - c.1030T>A r.(?) p.(Cys344Ser) - VUS g.26861451T>A g.28534433T>A FOXN1(NM_003593.2):c.1030T>A (p.C344S) - FOXN1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1079T>C r.(?) p.(Leu360Pro) - VUS g.26861500T>C - FOXN1(NM_003593.3):c.1079T>C (p.L360P) - FOXN1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1115G>A r.(?) p.(Arg372His) - VUS g.26861536G>A - - - FOXN1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1178G>A r.(?) p.(Gly393Asp) - likely benign g.26861767G>A - FOXN1(NM_003593.2):c.1178G>A (p.G393D) - FOXN1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1184C>T r.(?) p.(Pro395Leu) - likely benign g.26861773C>T g.28534755C>T FOXN1(NM_003593.2):c.1184C>T (p.P395L) - FOXN1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1199C>T r.(?) p.(Pro400Leu) - likely benign g.26861788C>T - FOXN1(NM_003593.2):c.1199C>T (p.P400L) - FOXN1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1404G>A r.(?) p.(=) - VUS g.26861993G>A - FOXN1(NM_001369369.1):c.1404G>A (p.(Pro468=)) - FOXN1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1434C>G r.(?) p.(His478Gln) - likely benign g.26862023C>G - FOXN1(NM_003593.2):c.1434C>G (p.(His478Gln)) - FOXN1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1436T>C r.(?) p.(Leu479Pro) - likely benign g.26862025T>C - FOXN1(NM_003593.2):c.1436T>C (p.(Leu479Pro)) - FOXN1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1454C>T r.(?) p.(Pro485Leu) - VUS g.26862043C>T - FOXN1(NM_001369369.1):c.1454C>T (p.(Pro485Leu)) - FOXN1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1549G>T r.(?) p.(Asp517Tyr) - VUS g.26862138G>T g.28535120G>T - - FOXN1_000016 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs200053524 Germline - 2/2795 individuals - - - Mohammed Faruq
?/. - c.1632C>G r.(?) p.(Asn544Lys) - VUS g.26864139C>G g.28537121C>G FOXN1(NM_003593.2):c.1632C>G (p.N544K) - FOXN1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1634T>C r.(?) p.(Leu545Pro) - VUS g.26864141T>C - FOXN1(NM_003593.3):c.1634T>C (p.L545P) - FOXN1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1697C>T r.(?) p.(Pro566Leu) - VUS g.26864204C>T - FOXN1(NM_001369369.1):c.1697C>T (p.(Pro566Leu)) - FOXN1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1710G>A r.(?) p.(Ser570=) - likely benign g.26864217G>A - FOXN1(NM_003593.2):c.1710G>A (p.S570=) - FOXN1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1757G>A r.(?) p.(Cys586Tyr) - likely benign g.26864264G>A g.28537246G>A - - FOXN1_000017 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs73278523 Germline - 1/2795 individuals - - - Mohammed Faruq
?/. - c.1757G>A r.(?) p.(Cys586Tyr) - VUS g.26864264G>A - FOXN1(NM_003593.2):c.1757G>A (p.C586Y) - FOXN1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1784G>T r.(?) p.(Gly595Val) - likely benign g.26864291G>T g.28537273G>T FOXN1(NM_003593.2):c.1784G>T (p.G595V) - FOXN1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1812C>A r.(?) p.(Gly604=) - likely benign g.26864319C>A g.28537301C>A FOXN1(NM_003593.2):c.1812C>A (p.G604=) - FOXN1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1890C>T r.(?) p.(Ala630=) - likely benign g.26864397C>T - FOXN1(NM_003593.2):c.1890C>T (p.A630=) - FOXN1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1932C>T r.(?) p.(Pro644=) - likely benign g.26864439C>T g.28537421C>T FOXN1(NM_003593.2):c.1932C>T (p.P644=) - FOXN1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1932C>T r.(?) p.(Pro644=) - likely benign g.26864439C>T - FOXN1(NM_003593.2):c.1932C>T (p.P644=) - FOXN1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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