View transcript #00000789

Transcript name hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
Gene name HADHB (hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit)
Chromosome 2
Transcript - NCBI ID NM_000183.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000174.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

6 entries on 1 page. Showing entries 1 - 6.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
+/+ - 4/14 c.182G>A p.(Arg61His) probably_damaging(0.988) missense_variant - deleterious(0)
+/+ - 9/16 c.740G>A p.(Arg247His) benign(0.107) missense_variant - deleterious(0.05)
+/+ - 9/16 c.788A>G p.(Asp263Gly) probably_damaging(0.984) missense_variant - deleterious(0)
+/+ - 15/16 c.1331G>A p.(Arg444Lys) probably_damaging(0.999) missense_variant - tolerated(0.08)
./. - 15/16 c.1364T>A p.(Val455Glu) probably_damaging(0.932) missense_variant - deleterious(0)
+/+ - 15/16 c.1364T>G p.(Val455Gly) possibly_damaging(0.868) missense_variant - deleterious(0)
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