Unique variants in gene FOXN1

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

7 entries on 1 page. Showing entries 1 - 7.
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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.106T>C VUS r.(?) p.(Ser36Pro) g.26851093T>C - FOXN1:c.106T>C (S36P) - FOXN1_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.124-20G>A benign r.(=) p.(=) g.26851501G>A - FOXN1:c.124-20G>A - FOXN1_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 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 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:c.889A>T (I297F) - FOXN1_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 6 c.958C>T - r.(?) p.(Arg320Trp) g.26861379C>T - C987T (R320W) - FOXN1_000003 - PubMed: Markert 2011 - - Germline - - - - - Johan den Dunnen
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