View 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

7 entries on 1 page. Showing entries 1 - 7.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
?/? - 9/20 c.845T>A p.(Val282Asp) possibly_damaging(0.781) missense_variant - deleterious(0)
?/? - 9/20 c.871C>T p.(Arg291*) - stop_gained - -
?/? - 9/20 c.914T>A p.(Ile305Asn) probably_damaging(0.98) missense_variant - deleterious(0)
+/+ - 11/20 c.1025T>C p.(Leu342Pro) probably_damaging(1) missense_variant - deleterious(0)
+/+ - 12/20 c.1132C>T p.(Gln378*) - stop_gained - -
+/+ - 15/20 c.1528G>C p.(Glu510Gln) probably_damaging(0.997) missense_variant - deleterious(0)
+/+ - 16/20 c.1678C>T p.(Arg560*) - stop_gained - -
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