All transcript variants in gene HADHA

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

7 entries on 1 page. Showing entries 1 - 7.
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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     
?/? - 9/20 c.845T>A p.(Val282Asp) possibly_damaging(0.781) missense_variant - deleterious(0) subst g.26437385A>T - 5.640 - HADHA_000007 rs137852773 - ; 9739053 - - LOVD
?/? - 9/20 c.871C>T p.(Arg291*) - stop_gained - - subst g.26437359G>A - 3.440 - HADHA_000006 rs137852775 - ; 9739053 - - LOVD
?/? - 9/20 c.914T>A p.(Ile305Asn) probably_damaging(0.98) missense_variant - deleterious(0) subst g.26437316A>T - 5.430 - HADHA_000005 rs137852774 - ; 2019931;9739053 - - LOVD
+/+ - 11/20 c.1025T>C p.(Leu342Pro) probably_damaging(1) missense_variant - deleterious(0) subst g.26432709A>G - 6.060 - HADHA_000004 rs137852772 - ; clinVar; Ensembl; 9266371 - - LOVD
+/+ - 12/20 c.1132C>T p.(Gln378*) - stop_gained - - subst g.26427019G>A - 5.000 - HADHA_000003 rs137852770 - ; clinVar; Ensembl; 7846063 - - LOVD
+/+ - 15/20 c.1528G>C p.(Glu510Gln) probably_damaging(0.997) missense_variant - deleterious(0) subst g.26418053C>G - 5.290 - HADHA_000002 rs137852769 - ; clinVar; Ensembl; 9003853;7811722;7846063;10518281;8770876 - - LOVD
+/+ - 16/20 c.1678C>T p.(Arg560*) - stop_gained - - subst g.26417450G>A - 1.330 - HADHA_000001 rs137852771 - ; clinVar; Ensembl; 8865274 - - LOVD
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium