Full data view for gene FH

This database is one of the TCA cycle gene variant databases
Information The variants shown are described using the NM_000143.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
Legend  

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 c.-11C>T r.(=) p.(=) 0 - Parent #1 - VUS g.241683033G>A g.241519733G>A C>T -11 of ATG - FH_000002 - PubMed: Lehtonen - - Germline - - - 0 - DNA DHPLC, SEQ - - Healthy/Control - - - - - Finland - - 0 - - 1 Jean-Pierre Bayley
?/? 1 c.-11C>T r.(=) p.(=) 0.01 - Unknown - VUS g.241683033G>A g.241519733G>A p.? - FH_000002 FH enzymatic activity : normal - - - Unknown - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 1 Audrey Remenieras
-?/. - c.-11C>T r.(?) p.(=) - - Unknown - likely benign g.241683033G>A g.241519733G>A FH(NM_000143.3):c.-11C>T - FH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-11C>T r.(?) p.(=) - - Unknown - likely benign g.241683033G>A g.241519733G>A FH(NM_000143.3):c.-11C>T - FH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
Legend