Full data view for gene FOXN1

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

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ClinVar ID     

dbSNP ID     

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Frequency     

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VIP     

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Technique     

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Disease     

ID_report     

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Panel size     

Owner     
?/. - c.106T>C VUS r.(?) p.(Ser36Pro) Unknown g.26851093T>C - FOXN1:c.106T>C (S36P) - FOXN1_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.124-20G>A benign r.(=) p.(=) Unknown g.26851501G>A - FOXN1:c.124-20G>A - FOXN1_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.562del - r.(?) p.(Ser188Alafs*114) Both (homozygous) g.26851959del - 562delA - FOXN1_000004 - PubMed: Chou 2014 - - Germline - - - 0 - DNA SEQ - - T-cell immunodeficiency, congenital alopecia and nail dystrophy 25173801-Pat PubMed: Chou 2014 - F yes Lebanon - - 0 - - 1 Johan den Dunnen
+/. 4 c.763C>T - r.(?) p.(Arg255*) Both (homozygous) g.26856175C>T - 792C>T (R255X) - FOXN1_000002 - PubMed: Frank 1999 - - Germline yes - - 0 - DNA SEQ - - T-cell immunodeficiency, congenital alopecia and nail dystrophy 10206641-Fam PubMed: Adriana 2004, PubMed: Frank 1999, PubMed: Pignata 1996 extensive 7-generation family, 6 affecteds, 55 unaffected heterozygous carriers, 2 sisters from Frank1999 F - Italy south (Acerno) - 0 - - 6 Johan den Dunnen
+/. 4 c.763C>T - r.(?) p.(Arg255*) Both (homozygous) g.26856175C>T - R255X - FOXN1_000002 - PubMed: Markert 2011 - - Germline - - - 0 - DNA SEQ - - T-cell immunodeficiency, congenital alopecia and nail dystrophy 20978268-Pam1Pat PubMed: Markert 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents (distant cousins) F yes Portugal - - 0 - thymus transplantation therapy 1 Johan den Dunnen
+/. 5 c.880G>A - r.(?) p.(Val294Ile) Both (homozygous) g.26857816G>A - NM_003593.2:909G>A (V294I) - FOXN1_000001 - - - - Germline yes - - 0 - DNA PCR blood - Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive - - - F yes Turkey - 00y06m 0 - HSCT 2 Sinem Firtina
?/. - c.889A>T VUS r.(?) p.(Ile297Phe) Unknown g.26857825A>T - FOXN1:c.889A>T (I297F) - FOXN1_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 6 c.958C>T - r.(?) p.(Arg320Trp) Both (homozygous) g.26861379C>T - C987T (R320W) - FOXN1_000003 - PubMed: Markert 2011 - - Germline - - - 0 - DNA SEQ - - T-cell immunodeficiency, congenital alopecia and nail dystrophy 20978268-Pam2Pat PubMed: Markert 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - French;African - 0 - - 1 Johan den Dunnen
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