Full data view for gene FOXR2

Information The variants shown are described using the NM_198451.3 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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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     

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Age at death     

VIP     

Data_av     

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Panel size     

Owner     
-?/. - c.199C>G r.(?) p.(Pro67Ala) Unknown - likely benign g.55650343C>G g.55623910C>G FOXR2(NM_198451.3):c.199C>G (p.(Pro67Ala)) - FOXR2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.499C>T r.(?) p.(Leu167Phe) Unknown - VUS g.55650643C>T g.55624210C>T FOXR2(NM_198451.3):c.499C>T (p.L167F) - FOXR2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.644T>G r.(?) p.(Val215Gly) Both (homozygous) - likely pathogenic (recessive) g.55650788T>G g.55624355T>G - - FOXR2_000009 novel candidate disease gene PubMed: Hu 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - ID M320 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes Iran Persia - 0 - - 2 Johan den Dunnen
-?/. - c.678C>T r.(?) p.(Phe226=) Unknown - likely benign g.55650822C>T - FOXR2(NM_198451.3):c.678C>T (p.F226=) - FOXR2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.692C>T r.(?) p.(Thr231Ile) Unknown - VUS g.55650836C>T g.55624403C>T FOXR2(NM_198451.3):c.692C>T (p.T231I) - FOXR2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.857T>C r.(?) p.(Val286Ala) Maternal (inferred) - VUS g.55651001T>C g.55624568T>C - - FOXR2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.857T>C r.(?) p.(Val286Ala) Maternal (inferred) - VUS g.55651001T>C g.55624568T>C - - FOXR2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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