Full data view for gene FATE1

Information The variants shown are described using the NM_033085.2 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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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     
?/. - c.29C>T r.(?) p.(Ala10Val) Maternal (inferred) - VUS g.150884620C>T g.151716148C>T - - FATE1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.29C>T r.(?) p.(Ala10Val) Maternal (inferred) - VUS g.150884620C>T g.151716148C>T - - FATE1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.29C>T r.(?) p.(Ala10Val) Parent #1 - VUS g.150884620C>T g.151716148C>T - - FATE1_000001 recurrent, found 17 times PubMed: Tarpey 2009 - - Germline - 17/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 17 Lucy Raymond
-?/. - c.209T>C r.(?) p.(Met70Thr) Unknown - likely benign g.150885846T>C g.151717374T>C FATE1(NM_033085.2):c.209T>C (p.M70T) - FATE1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.235-2A>C r.spl? p.? Unknown - VUS g.150889865A>C g.151721393A>C FATE1(NM_033085.2):c.235-2A>C - FATE1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.320G>A r.(?) p.(Gly107Asp) Parent #1 - VUS g.150889952G>A g.151721480G>A - - FATE1_000004 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
-?/. - c.445C>T r.(?) p.(Arg149Cys) Unknown - likely benign g.150891124C>T - FATE1(NM_033085.2):c.445C>T (p.R149C) - FATE1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.482G>A r.(?) p.(Arg161Lys) Unknown - likely benign g.150891161G>A - FATE1(NM_033085.2):c.482G>A (p.R161K) - FATE1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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