All transcript variants in gene FH

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the NM_000143.3 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
./. - - c.7C>T - - - - - - g.241683016G>A - - - FH_000002 - - ; clinvar; - - - LOVD
./. - - c.139C>T - - - - - - g.241680610G>A - - - FH_000001 - - ; clinvar; - - - LOVD
./. - - c.194A>G - - - - - - g.241680555T>C - - - FH_000006 - - ; clinvar; - - - LOVD
./. - - c.379G>T - - - - - - g.241675443C>A - - - FH_000005 - - ; clinvar; - - - LOVD
./. - - c.702T>G - - - - - - g.241671939A>C - - - FH_000004 - - ; clinvar; - - - LOVD
./. - - c.739-10T>C - - - - - - g.241669478A>G - - - FH_000003 - - ; clinvar; - - - LOVD
./. - - c.1007T>G - - - - - - g.241667443A>C - - - FH_000007 - - ; clinvar; - - - LOVD
./. - - c.1023T>G - - - - - - g.241667427A>C - - - FH_000010 - - ; clinvar; - - - LOVD
./. - - c.1339A>T - - - - - - g.241663788T>A - - - FH_000009 - - ; clinvar; - - - LOVD
./. - - c.1391-1G>C - - - - - - g.241661271C>G - - - FH_000008 - - ; clinvar; - - - LOVD
./. - - c.1446A>C - - - - - - g.241661215T>G - - - FH_000011 - - ; clinvar; - - - LOVD
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium