Full data view for gene FOXE3

Information The variants shown are described using the NM_012186.2 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 1 c.720C>A r.(?) p.(Cys240*) Both (homozygous) - likely pathogenic g.47882707C>A g.47417035C>A - - FOXE3_000006 - PubMed: Valleix 2006 - - Germline - - - - - DNA SEQ - - ASGD2 - PubMed: Valleix 2006 3-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents F;M yes France - - - - - 3 Deepti Anand
+?/. 1 c.720C>A r.(?) p.(Cys240*) Both (homozygous) - likely pathogenic g.47882707C>A g.47417035C>A - - FOXE3_000006 homozygosity mapping; nonsense variant PubMed: Ali 2010 - - Germline yes - - - - DNA SEQ - - ASGD2 - PubMed: Ali 2010 8-generation family, 7 affecteds (3F, 4M), unaffected heterozygous carrier parents/sibs F;M yes Pakistan - - - - - 7 Deepti Anand
+?/. 1 c.720C>A r.(?) p.(Cys240*) Both (homozygous) - likely pathogenic g.47882707C>A g.47417035C>A - - FOXE3_000006 - PubMed: Anjum 2010 - - Germline - - - - - DNA SEQ - - ASGD2 - PubMed: Anjum 2010 6-generation family, 5 affecteds (5F), unaffected hetereozygous carrier parents/sibs F yes Pakistan - - - - - 5 Deepti Anand
+?/. 1 c.720C>A r.(?) p.(Cys240*) Both (homozygous) - likely pathogenic g.47882707C>A g.47417035C>A - - FOXE3_000006 - PubMed: Reis 2010, Journal: Reis 2010 - - Germline - - - - - DNA SEQ - - MCOP - PubMed: Reis 2010, Journal: Reis 2010 - - - Bangladesh - - - - - 1 Deepti Anand
+?/. 1 c.720C>A r.(?) p.(Cys240*) Both (homozygous) - likely pathogenic g.47882707C>A g.47417035C>A - - FOXE3_000006 - PubMed: Reis 2010, Journal: Reis 2010 - - Germline - - - - - DNA SEQ - - MCOP - PubMed: Reis 2010, Journal: Reis 2010 - - - - - - - - - 1 Deepti Anand
+?/. 1 c.720C>A r.(?) p.(Cys240*) Both (homozygous) - likely pathogenic g.47882707C>A g.47417035C>A - - FOXE3_000006 - PubMed: Reis 2010, Journal: Reis 2010 - - Germline - - - - - DNA SEQ - - MCOP - PubMed: Reis 2010, Journal: Reis 2010 - - - - white - - - - 1 Deepti Anand
+/. - c.720C>A r.(?) p.(Cys240Ter) Both (homozygous) - pathogenic (recessive) g.47882707C>A g.47417035C>A - - FOXE3_000006 - PubMed: Basharat 2023, Journal: Basharat 2023 - - Germline yes - - - - DNA SEQ Blood - ? MA102PatIV5 PubMed: Basharat 2023, Journal: Basharat 2023 4-generation family, 3 affected sibs (F, 2M), unaffected heterozygous parents/relatives M yes Pakistan Asia-S - - - - 3 Rabia Basharat
+/. - c.720C>A r.(?) p.(Cys240Ter) Both (homozygous) - pathogenic (recessive) g.47882707C>A g.47417035C>A - - FOXE3_000006 - PubMed: Basharat 2023, Journal: Basharat 2023 - - Germline yes - - - - DNA SEQ Blood - ? MA125PatIV2 PubMed: Basharat 2023, Journal: Basharat 2023 4-generation family, 3 affected (F, 2M), unaffected heterozygous parents/relatives M yes Pakistan Asia-S - - - - 3 Rabia Basharat
+/. - c.720C>A r.(?) p.(Cys240Ter) Both (homozygous) - pathogenic (recessive) g.47882707C>A g.47417035C>A - - FOXE3_000006 father not available for analysis PubMed: Basharat 2023, Journal: Basharat 2023 - - Germline yes - - - - DNA SEQ Blood - ? MA203PatIV2 PubMed: Basharat 2023, Journal: Basharat 2023 4-generation family, 4 affected (F, 3M), unaffected heterozygous parents/relatives F yes Pakistan Asia-S - - - - 4 Rabia Basharat
+/. - c.720C>A r.(?) p.(Cys240Ter) Both (homozygous) - pathogenic (recessive) g.47882707C>A g.47417035C>A - - FOXE3_000006 - PubMed: Chassaing 2014 - - Germline - - - - - DNA PCRq, SEQ - gene panel MCOP Pat29 PubMed: Chassaing 2014 2-generation family, 1 affected, unaffected parents F - France - - - - - 1 Johan den Dunnen
+/. - c.720C>A r.(?) p.(Cys240Ter) Both (homozygous) - pathogenic (recessive) g.47882707C>A g.47417035C>A - - FOXE3_000006 not in 384 ethnically matched control chromosomes PubMed: Khan 2016 - - Germline - - - - - DNA SEQ - WES ASGD2 FamPKCC139 PubMed: Khan 2016 4-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents F;M yes Pakistan - - - - - 4 Johan den Dunnen
+/. - c.720C>A r.(?) p.(Cys240Ter) Both (homozygous) ACMG pathogenic (recessive) g.47882707C>A g.47417035C>A - - FOXE3_000006 ACMG PVS1, PS1, PM2, PM3, PP4 PubMed: Reis 2021 - - Germline - - - - - DNA SEQ - - ? Fam13 PubMed: Reis 2021 family, 1 affected F - India Asia-E - - - - 1 Johan den Dunnen
+/. - c.720C>A r.(?) p.(Cys240Ter) Both (homozygous) ACMG pathogenic (recessive) g.47882707C>A g.47417035C>A - - FOXE3_000006 ACMG PVS1, PS1, PM2, PM3, PP4 PubMed: Reis 2021 - - Germline - - - - - DNA SEQ - - ? Fam14PatA PubMed: Reis 2021 family, 2 affected F - Pakistan Asia-S - - - - 2 Johan den Dunnen
+/. - c.720C>A r.(?) p.(Cys240Ter) Both (homozygous) ACMG pathogenic (recessive) g.47882707C>A g.47417035C>A - - FOXE3_000006 ACMG PVS1, PS1, PM2, PM3, PP4 PubMed: Reis 2021 - - Germline - - - - - DNA SEQ - - ? Fam14PatB PubMed: Reis 2021 sister F - Pakistan Asia-S - - - - 1 Johan den Dunnen
+/. - c.720C>A r,(?) p.(Cys240Ter) Both (homozygous) - pathogenic (recessive) g.47882707C>A g.47417035C>A - - FOXE3_000006 - PubMed: Ernst 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - 59-gene panel ? Pat8 PubMed: Ernst 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - Middle-East - - - - 1 Johan den Dunnen
+/. - c.720C>A r,(?) p.(Cys240Ter) Both (homozygous) - pathogenic (recessive) g.47882707C>A g.47417035C>A - - FOXE3_000006 - PubMed: Ernst 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - 59-gene panel ? Pat9 PubMed: Ernst 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - Middle-East - - - - 1 Johan den Dunnen
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