Full data view for 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     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Date     

Template     

Technique     

Tissue     

Description     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Consanguinity     

Age of death     

Cause of death     

Remarks     

Panel size     

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

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium