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.

6 entries on 1 page. Showing entries 1 - 6.
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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     
+?/+ 1_10 c.(?_-63)_(*271_?)del r.? p.? 0 - Parent #1 - likely pathogenic g.(?_241660857)_(241683085_?)del - Whole-gene deletion - FH_000001 not found in 300 chrom PubMed: Tomlinson - - Germline - - - 0 - DNA SEQ, SSCA, CSGE - - cancer - - 1 family 4 affected - - United Kingdom (Great Britain) - - 0 - - 1 Jean-Pierre Bayley
+?/+ 1_10 c.(?_-63)_(*271_?)del r.? p.? 0.01 - Parent #1 - likely pathogenic g.(?_241660857)_(241683085_?)del - Whole-gene deletion - FH_000001 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
+?/+ 1_10 c.(?_-63)_(*271_?)del r.? p.? 0 - Parent #1 - likely pathogenic g.(?_241660857)_(241683085_?)del - Whole-gene deletion - FH_000001 - PubMed: Alam - - Germline - - - 0 - DNA SEQ - - cancer - - 1 family 1 affected - - United Kingdom (Great Britain) - - 0 - - 1 Jean-Pierre Bayley
+?/+ 1_10 c.(?_-63)_(*271_?)del r.? p.? 0 - Parent #1 - likely pathogenic g.(?_241660857)_(241683085_?)del - Whole-gene deletion - FH_000001 - PubMed: Alam - - Germline - - - 0 - DNA SEQ - - cancer - - 1 family 7 affected - - United Kingdom (Great Britain) - - 0 - - 1 Jean-Pierre Bayley
+?/+ 1_10 c.(?_-63)_(*271_?)del r.? p.? 0 - Unknown - likely pathogenic g.(?_241660857)_(241683085_?)del - c.1-? c.*100del - FH_000001 whole-gene deletion PubMed: Smit - - Germline - - - 0 - DNA MLPA - - cancer - - Netherlands; 1 family 3 affected F - Netherlands - - 0 - - 1 Jean-Pierre Bayley
?/? 1_10 c.(?_-63)_(*271_?)del r.? p.? 0.01 - Unknown - VUS g.(?_241660857)_(241683085_?)del - Whole-gene deletion - FH_000001 - PubMed: Gardie - - Germline - - - 0 - DNA SEQ - - cancer - - 5 isolated cases - - United Kingdom (Great Britain) - - 0 - - 1 Jean-Pierre Bayley
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