All transcript variants in gene HADHB

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the NM_000183.2 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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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     
+/+ - 4/14 c.182G>A p.(Arg61His) probably_damaging(0.988) missense_variant - deleterious(0) subst g.26486320G>A - 5.640 - HADHB_000001 rs121913132 - ; clinVar; Ensembl; 8651282 - - LOVD
+/+ - 9/16 c.740G>A p.(Arg247His) benign(0.107) missense_variant - deleterious(0.05) subst g.26502112G>A - 5.690 - HADHB_000002 rs121913133 - ; clinVar; Ensembl; 8651282 - - LOVD
+/+ - 9/16 c.788A>G p.(Asp263Gly) probably_damaging(0.984) missense_variant - deleterious(0) subst g.26502160A>G - 5.620 - HADHB_000003 rs121913131 - ; clinVar; Ensembl; 8651282;8163672 - - LOVD
+/+ - 15/16 c.1331G>A p.(Arg444Lys) probably_damaging(0.999) missense_variant - tolerated(0.08) subst g.26508381G>A - 5.670 - HADHB_000004 rs121913134 - ; clinVar; Ensembl; 19699128;9259266 - - LOVD
./. - 15/16 c.1364T>A p.(Val455Glu) probably_damaging(0.932) missense_variant - deleterious(0) subst g.26508414T>A - 5.670 - HADHB_000005 NA - ; - - - LOVD
+/+ - 15/16 c.1364T>G p.(Val455Gly) possibly_damaging(0.868) missense_variant - deleterious(0) subst g.26508414T>G - 5.670 - HADHB_000006 rs267606859 - ; clinVar; Ensembl; 19699128 - - LOVD
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium