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.

10 entries on 1 page. Showing entries 1 - 10.
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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.301C>T r.(?) p.(Arg101*) - - Parent #1 - likely pathogenic g.241676980G>A g.241513680G>A Arg58X, R58X, AAAins435 - FH_000014 UK, USA, not found in 620 chrom PubMed: Tomlinson, PubMed: Wei - - Germline - - - 0 - DNA SEQ, SSCA, CSGE - - cancer - - 7 families 14 affected - - United Kingdom (Great Britain); United States - - 0 - - 2 Jean-Pierre Bayley
+?/+ 3 c.301C>T r.(?) p.(Arg101*) - - Parent #1 - likely pathogenic g.241676980G>A g.241513680G>A Arg58X, R58X, AAAins435 - FH_000014 UK, USA, not found in 620 chrom PubMed: Tomlinson, PubMed: Wei - - Germline - - - 0 - DNA SEQ, SSCA, CSGE - - cancer - - 7 families 14 affected - - United Kingdom (Great Britain); United States - - 0 - - 2 Jean-Pierre Bayley
+?/+ 3 c.301C>T r.(?) p.(Arg101*) - - Parent #1 - likely pathogenic g.241676980G>A g.241513680G>A Arg58X, R58X, AAAins435 - FH_000014 UK, USA, not found in 620 chrom PubMed: Tomlinson, PubMed: Wei - - Germline - - - 0 - DNA SEQ, SSCA, CSGE - - cancer - - 7 families 14 affected - - United Kingdom (Great Britain); United States - - 0 - - 2 Jean-Pierre Bayley
+?/+ 3 c.301C>T r.(?) p.(Arg101*) - - Parent #1 - likely pathogenic g.241676980G>A g.241513680G>A Arg58X, R58X, AAAins435 - FH_000014 UK, USA, not found in 620 chrom PubMed: Tomlinson, PubMed: Wei - - Germline - - - 0 - DNA SEQ, SSCA, CSGE - - cancer - - 7 families 14 affected - - United Kingdom (Great Britain); United States - - 0 - - 2 Jean-Pierre Bayley
+?/+ 3 c.301C>T r.(?) p.(Arg101*) - - Parent #1 - likely pathogenic g.241676980G>A g.241513680G>A Arg58X, R58X, AAAins435 - FH_000014 UK, USA, not found in 620 chrom PubMed: Tomlinson, PubMed: Wei - - Germline - - - 0 - DNA SEQ, SSCA, CSGE - - cancer - - 7 families 14 affected - - United Kingdom (Great Britain); United States - - 0 - - 2 Jean-Pierre Bayley
+?/+ 3 c.301C>T r.(?) p.(Arg101*) - - Parent #1 - likely pathogenic g.241676980G>A g.241513680G>A Arg58X, R58X, AAAins435 - FH_000014 UK, USA, not found in 620 chrom PubMed: Tomlinson, PubMed: Wei - - Germline - - - 0 - DNA SEQ, SSCA, CSGE - - cancer - - 7 families 14 affected - - United Kingdom (Great Britain); United States - - 0 - - 2 Jean-Pierre Bayley
+?/+ 3 c.301C>T r.(?) p.(Arg101*) - - Parent #1 - likely pathogenic g.241676980G>A g.241513680G>A Arg58X, R58X, AAAins435 - FH_000014 UK, USA, not found in 620 chrom PubMed: Tomlinson, PubMed: Wei - - Germline - - - 0 - DNA SEQ, SSCA, CSGE - - cancer - - 7 families 14 affected - - United Kingdom (Great Britain); United States - - 0 - - 2 Jean-Pierre Bayley
+?/+ 3 c.301C>T r.(?) p.(Arg101*) - - Parent #1 - likely pathogenic g.241676980G>A g.241513680G>A Arg58X, R58X, AAAins435 - FH_000014 UK, USA, not found in 620 chrom PubMed: Pollard - - Germline - - - 0 - DNA SEQ - - ? - - 1 family 1 affected - - United Kingdom (Great Britain); United States - - 0 - - 1 Jean-Pierre Bayley
+/+ 3 c.301C>T r.(?) p.(Arg101*) - - Unknown - pathogenic g.241676980G>A g.241513680G>A p.Arg58X - FH_000014 FH enzymatic activity reduced PubMed: Pithukpakorn 2006 - - Unknown - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 1 Audrey Remenieras
+/. - c.301C>T r.(?) p.(Arg101Ter) - - Unknown - pathogenic g.241676980G>A g.241513680G>A - - FH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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