All variants in the FH gene

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

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     

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     

Owner     
+?/+? 1 c.(?_-63)_(132+1_133-1)del r.spl? p.? - - - likely pathogenic g.(241680617_241682890)_(241683085_?)del - deletion exon 1 - FH_000110 - PubMed: Ahvenainen - - Germline - - - 0 - Jean-Pierre Bayley
+?/+? 1 c.(?_-63)_(132+1_133-1)del r.spl? p.? - - - likely pathogenic g.(241680617_241682890)_(241683085_?)del - Deletion of Exon 1 - FH_000111 - PubMed: Ahvenainen - - Germline - - - 0 - Jean-Pierre Bayley
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