Transcript #00000786

Transcript name hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
Gene name HADHA (hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit)
Chromosome 2
Transcript - NCBI ID NM_000182.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000173.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

86 entries on 1 page. Showing entries 1 - 86.
Legend  

Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.-201C>T p.(=) - - - -
./. - - c.-189G>A p.(=) - - - -
./. - - c.-168del p.(=) - - - -
./. - - c.-37T>C p.(=) - - - -
./. - - c.1A>G p.? - - - -
./. - - c.16G>C p.(Ala6Pro) - - - -
./. - - c.68-10T>G p.(=) - - - -
./. - - c.79C>T p.(Arg27Cys) - - - -
./. - - c.157C>T p.(Arg53*) - - - -
./. - - c.180+1G>A p.? - - - -
./. - - c.180+3A>G p.? - - - -
./. - - c.240G>A p.(Trp80*) - - - -
./. - - c.264C>T p.(=) - - - -
./. - - c.274_278del p.(Ser92Lysfs*10) - - - -
./. - - c.403A>G p.(Lys135Glu) - - - -
./. - - c.453+1G>A p.? - - - -
./. - - c.454-13C>T p.(=) - - - -
./. - - c.474C>T p.(=) - - - -
./. - - c.515del p.(Pro172Leufs*29) - - - -
./. - - c.560G>C p.(Arg187Thr) - - - -
./. - - c.573+8_573+9insT p.(=) - - - -
./. - - c.585T>A p.(=) - - - -
./. - - c.589G>T p.(Ala197Ser) - - - -
./. - - c.676+2T>C p.? - - - -
./. - - c.676+6T>C p.(=) - - - -
./. - - c.703C>T p.(Arg235Trp) - - - -
./. - - c.809C>T p.(Ala270Val) - - - -
./. - - c.845T>A p.(Val282Asp) - - - -
?/? - 9/20 c.845T>A p.(Val282Asp) possibly_damaging(0.781) missense_variant - deleterious(0)
./. - - c.858G>A p.(=) - - - -
?/? - 9/20 c.871C>T p.(Arg291*) - stop_gained - -
./. - - c.871C>T p.(Arg291*) - - - -
?/? - 9/20 c.914T>A p.(Ile305Asn) probably_damaging(0.98) missense_variant - deleterious(0)
./. - - c.914T>A p.(Ile305Asn) - - - -
./. - - c.919-2A>G p.? - - - -
./. - - c.932G>C p.(Gly311Ala) - - - -
./. - - c.1025T>C p.(Leu342Pro) - - - -
+/+ - 11/20 c.1025T>C p.(Leu342Pro) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.1052del p.(Lys351Argfs*21) - - - -
./. - - c.1072C>A p.(Gln358Lys) - - - -
./. - - c.1086-3_1092del p.? - - - -
+/+ - 12/20 c.1132C>T p.(Gln378*) - stop_gained - -
./. - - c.1132C>T p.(Gln378*) - - - -
./. - - c.1202del p.(Gln401Argfs*8) - - - -
./. - - c.1212G>C p.(=) - - - -
./. - - c.1221-1G>C p.? - - - -
./. - - c.1237A>T p.(Lys413*) - - - -
./. - - c.1344_1345del p.(Phe449*) - - - -
./. - - c.1392+10G>A p.(=) - - - -
./. - - c.1528G>C p.(Glu510Gln) - - - -
+/+ - 15/20 c.1528G>C p.(Glu510Gln) probably_damaging(0.997) missense_variant - deleterious(0)
./. - - c.1590del p.(Lys531Serfs*24) - - - -
./. - - c.1620+11G>C p.(=) - - - -
./. - - c.1655C>T p.(Ala552Val) - - - -
+/+ - 16/20 c.1678C>T p.(Arg560*) - stop_gained - -
./. - - c.1678C>T p.(Arg560*) - - - -
./. - - c.1690-14C>T p.(=) - - - -
./. - - c.1690-13G>A p.(=) - - - -
./. - - c.1690-6G>A p.(=) - - - -
./. - - c.1690-2A>G p.? - - - -
./. - - c.1793_1794del p.(His598Argfs*33) - - - -
./. - - c.1794T>C p.(=) - - - -
./. - - c.1811del p.(Gly604Alafs*16) - - - -
./. - - c.1829G>A p.(Arg610Gln) - - - -
./. - - c.1912A>G p.(Ile638Val) - - - -
./. - - c.1915_1918del p.(Tyr639Argfs*4) - - - -
./. - - c.1918C>T p.(Gln640*) - - - -
./. - - c.1967del p.(Leu656*) - - - -
./. - - c.1981C>T p.(=) - - - -
./. - - c.1981_1999del p.(Leu661Serfs*12) - - - -
./. - - c.2071G>T p.(Glu691*) - - - -
./. - - c.2113G>A p.(Val705Ile) - - - -
./. - - c.2146+1G>A p.? - - - -
./. - - c.2146+2T>C p.? - - - -
./. - - c.2147-8C>G p.(=) - - - -
./. - - c.2228_2229insAACA p.(Phe744Thrfs*10) - - - -
./. - - c.*202G>A p.(=) - - - -
./. - - c.*302G>A p.(=) - - - -
./. - - c.*355C>T p.(=) - - - -
./. - - c.*375_*376del p.(=) - - - -
./. - - c.*389C>G p.(=) - - - -
./. - - c.*405C>T p.(=) - - - -
./. - - c.*464_*465del p.(=) - - - -
./. - - c.*489G>A p.(=) - - - -
./. - - c.*494G>T p.(=) - - - -
./. - - c.*510A>T p.(=) - - - -
Legend