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

49 entries on 1 page. Showing entries 1 - 49.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.-235del p.(=) - - - -
./. - - c.-214C>T p.(=) - - - -
./. - - c.-202G>A p.(=) - - - -
./. - - c.-201G>A p.(=) - - - -
./. - - c.-185G>C p.(=) - - - -
./. - - c.-176G>T p.(=) - - - -
./. - - c.-173T>C p.(=) - - - -
./. - - c.-124C>G p.(=) - - - -
./. - - c.-9+11G>C p.(=) - - - -
./. - - c.3_4insACT p.(Thr2dup) - - - -
./. - - c.64+11T>C p.(=) - - - -
./. - - c.135G>A p.(=) - - - -
./. - - c.182G>A p.(Arg61His) - - - -
+/+ - 4/14 c.182G>A p.(Arg61His) probably_damaging(0.988) missense_variant - deleterious(0)
./. - - c.209+1G>A p.? - - - -
./. - - c.210-5C>A p.? - - - -
./. - - c.246A>G p.(=) - - - -
./. - - c.272C>T p.(Thr91Ile) - - - -
./. - - c.356_357insT p.(Ala120Cysfs*8) - - - -
./. - - c.560A>G p.(Asn187Ser) - - - -
./. - - c.712C>T p.(Arg238Trp) - - - -
./. - - c.740G>A p.(Arg247His) - - - -
+/+ - 9/16 c.740G>A p.(Arg247His) benign(0.107) missense_variant - deleterious(0.05)
./. - - c.788A>G p.(Asp263Gly) - - - -
+/+ - 9/16 c.788A>G p.(Asp263Gly) probably_damaging(0.984) missense_variant - deleterious(0)
./. - - c.812-5A>T p.? - - - -
./. - - c.825T>C p.(=) - - - -
./. - - c.830A>G p.(Lys277Arg) - - - -
./. - - c.891C>T p.(=) - - - -
./. - - c.919A>G p.(Asn307Asp) - - - -
./. - - c.966G>A p.(=) - - - -
./. - - c.1014-14A>G p.(=) - - - -
./. - - c.1149+4A>T p.? - - - -
./. - - c.1175C>T p.(Ala392Val) - - - -
./. - - c.1331G>A p.(Arg444Lys) - - - -
+/+ - 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)
./. - - c.1364T>G p.(Val455Gly) - - - -
./. - - c.1371G>A p.(=) - - - -
./. - - c.*52A>G p.(=) - - - -
./. - - c.*136G>C p.(=) - - - -
./. - - c.*196A>G p.(=) - - - -
./. - - c.*241T>G p.(=) - - - -
./. - - c.*244T>G p.(=) - - - -
./. - - c.*268G>A p.(=) - - - -
./. - - c.*351C>G p.(=) - - - -
./. - - c.*380A>G p.(=) - - - -
./. - - c.*486G>A p.(=) - - - -
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