Full data view for gene FH

LUMC Fumarate Hydratase gene variant database
Information The variants shown are described using the NM_000143.3 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     

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     
+/+ 3 c.349G>C r.(?) p.(Ala117Pro) - - Parent #1 - pathogenic g.241676932C>G g.241513632C>G Ala74Pro - FH_000018 UK, not found in 300 chrom PubMed: Tomlinson - - Germline - - - 0 - DNA SEQ, SSCA, CSGE - - cancer - - 1 family 1 affected - - United Kingdom (Great Britain) - - 0 - - 1 Jean-Pierre Bayley
+/+ 3 c.349G>C r.(?) p.(Ala117Pro) - - Unknown - pathogenic g.241676932C>G g.241513632C>G p.Ala74Pro - FH_000018 Fh enzymatic activity 41% - - - Unknown - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 0 Audrey Remenieras
+/+ 3 c.349G>C r.(?) p.(Ala117Pro) - - Unknown - pathogenic g.241676932C>G g.241513632C>G Ala74Pro - FH_000018 UK, not found in 300 chrom - - - Unknown - - - 0 - DNA SEQ - - cancer - - - - - United Kingdom (Great Britain) - - 0 - - 1 Audrey Remenieras
+/+ 3 c.349G>C r.(?) p.(Ala117Pro) 0.42 - Unknown - pathogenic g.241676932C>G g.241513632C>G Ala74Pro - FH_000018 UK, not found in 300 chrom - - - Unknown - - - 0 - DNA SEQ - - cancer - - - - - United Kingdom (Great Britain) - - 0 - - 1 Audrey Remenieras
+/+ 3 c.349G>C r.(?) p.(Ala117Pro) 0 - Unknown - pathogenic g.241676932C>G g.241513632C>G Ala74Pro - FH_000018 UK, not found in 300 chrom - - - Unknown - - - 0 - DNA SEQ - - cancer - - - - - United Kingdom (Great Britain) - - 0 - - 1 Audrey Remenieras
+/+ 3 c.349G>C r.(?) p.(Ala117Pro) 0 - Unknown - pathogenic g.241676932C>G g.241513632C>G Ala74Pro - FH_000018 UK, not found in 300 chrom - - - Unknown - - - 0 - DNA SEQ - - cancer - - - - - United Kingdom (Great Britain) - - 0 - - 1 Audrey Remenieras
+/+ 3 c.349G>C r.(?) p.(Ala117Pro) 0 - Unknown - pathogenic g.241676932C>G g.241513632C>G p.Ala74Pro - FH_000018 Fh enzymatic activity 41% - - - Unknown - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 1 Audrey Remenieras
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