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.

9 entries on 1 page. Showing entries 1 - 9.
Legend   How to query  

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.320A>C r.(?) p.(Asn107Thr) - - Parent #1 - VUS g.241676961T>G g.241513661T>G Asn64Thr, N64T - FH_000017 UK, not found in 300 chrom PubMed: Tomlinson, PubMed: Alam, PubMed: Carvajal-Carmona - - Germline - - - 0 - DNA SEQ, SSCA, CSGE - - cancer, LCT - - 10 families 27 affected - - United Kingdom (Great Britain) - - 0 - - 3 Jean-Pierre Bayley
?/+? 3 c.320A>C r.(?) p.(Asn107Thr) - - Parent #1 - VUS g.241676961T>G g.241513661T>G Asn64Thr, N64T - FH_000017 UK, not found in 300 chrom PubMed: Tomlinson, PubMed: Alam, PubMed: Carvajal-Carmona - - Germline - - - 0 - DNA SEQ, SSCA, CSGE - - cancer, LCT - - 10 families 27 affected - - United Kingdom (Great Britain) - - 0 - - 3 Jean-Pierre Bayley
?/+? 3 c.320A>C r.(?) p.(Asn107Thr) - - Parent #1 - VUS g.241676961T>G g.241513661T>G Asn64Thr, N64T - FH_000017 UK, not found in 300 chrom PubMed: Tomlinson, PubMed: Alam, PubMed: Carvajal-Carmona - - Germline - - - 0 - DNA SEQ, SSCA, CSGE - - cancer, LCT - - 10 families 27 affected - - United Kingdom (Great Britain) - - 0 - - 3 Jean-Pierre Bayley
?/+? 3 c.320A>C r.(?) p.(Asn107Thr) - - Parent #1 - VUS g.241676961T>G g.241513661T>G Asn64Thr, N64T - FH_000017 UK, not found in 300 chrom PubMed: Tomlinson, PubMed: Alam, PubMed: Carvajal-Carmona - - Germline - - - 0 - DNA SEQ, SSCA, CSGE - - cancer, LCT - - 10 families 27 affected - - United Kingdom (Great Britain) - - 0 - - 3 Jean-Pierre Bayley
?/+? 3 c.320A>C r.(?) p.(Asn107Thr) - - Parent #1 - VUS g.241676961T>G g.241513661T>G Asn64Thr, N64T - FH_000017 UK, not found in 300 chrom PubMed: Tomlinson, PubMed: Alam, PubMed: Carvajal-Carmona - - Germline - - - 0 - DNA SEQ, SSCA, CSGE - - cancer, LCT - - 10 families 27 affected - - United Kingdom (Great Britain) - - 0 - - 3 Jean-Pierre Bayley
?/+? 3 c.320A>C r.(?) p.(Asn107Thr) - - Parent #1 - VUS g.241676961T>G g.241513661T>G Asn64Thr, N64T - FH_000017 UK, not found in 300 chrom PubMed: Tomlinson, PubMed: Alam, PubMed: Carvajal-Carmona - - Germline - - - 0 - DNA SEQ, SSCA, CSGE - - cancer, LCT - - 10 families 27 affected - - United Kingdom (Great Britain) - - 0 - - 3 Jean-Pierre Bayley
?/+? 3 c.320A>C r.(?) p.(Asn107Thr) - - Parent #1 - VUS g.241676961T>G g.241513661T>G Asn64Thr, N64T - FH_000017 UK, not found in 300 chrom PubMed: Tomlinson, PubMed: Alam, PubMed: Carvajal-Carmona - - Germline - - - 0 - DNA SEQ, SSCA, CSGE - - cancer, LCT - - 10 families 27 affected - - United Kingdom (Great Britain) - - 0 - - 3 Jean-Pierre Bayley
?/+? 3 c.320A>C r.(?) p.(Asn107Thr) - - Parent #1 - VUS g.241676961T>G g.241513661T>G Asn64Thr, N64T - FH_000017 UK, not found in 300 chrom PubMed: Tomlinson, PubMed: Alam, PubMed: Carvajal-Carmona - - Germline - - - 0 - DNA SEQ, SSCA, CSGE - - cancer, LCT - - 10 families 27 affected - - United Kingdom (Great Britain) - - 0 - - 3 Jean-Pierre Bayley
?/+? 3 c.320A>C r.(?) p.(Asn107Thr) - - Parent #1 - VUS g.241676961T>G g.241513661T>G Asn64Thr, N64T - FH_000017 UK, not found in 300 chrom PubMed: Tomlinson, PubMed: Alam, PubMed: Carvajal-Carmona - - Germline - - - 0 - DNA SEQ, SSCA, CSGE - - cancer, LCT - - 10 families 27 affected - - United Kingdom (Great Britain) - - 0 - - 3 Jean-Pierre Bayley
Legend   How to query