Transcript #00000787

Transcript name transcript variant X1
Gene name HADHA (hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit)
Chromosome 2
Transcript - NCBI ID XM_005264275.1
Transcript - Ensembl ID -
Protein - NCBI ID XP_005264332.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

130 entries on 2 pages. Showing entries 1 - 100.
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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.3G>A p.? - - - -
./. - - c.5_7del p.(Val2del) - - - -
./. - - c.16G>C p.(Ala6Pro) - - - -
./. - - c.24_25insGGCCTGCCGGGCGATTGGC p.(Ile9Glyfs*40) - - - -
./. - - c.64C>T p.(Arg22*) - - - -
./. - - c.68-10T>G p.(=) - - - -
./. - - c.72del p.(Tyr24*) - - - -
./. - - c.79C>T p.(Arg27Cys) - - - -
./. - - c.129_130insT p.(Gly44Trpfs*12) - - - -
./. - - 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.315-1G>A p.? - - - -
./. - - c.403A>G p.(Lys135Glu) - - - -
./. - - c.453+1G>A p.? - - - -
./. - - c.454-13C>T p.(=) - - - -
./. - - c.473+1C>T p.? - - - -
./. - - c.473+42del p.(=) - - - -
./. - - c.473+87G>C p.(=) - - - -
./. - - c.473+108_473+109insT p.(=) - - - -
./. - - c.474-41_474-40insT p.(=) - - - -
./. - - c.474-27T>A p.(=) - - - -
./. - - c.474-23G>T p.(=) - - - -
./. - - c.514G>C p.(Val172Leu) - - - -
./. - - c.519_520insGGACTGGTTGAC p.(Gly170_Asp173dup) - - - -
./. - - c.538+2T>C p.? - - - -
./. - - c.538+6T>C p.(=) - - - -
./. - - c.539-1G>A p.? - - - -
./. - - c.565C>T p.(Arg189Trp) - - - -
./. - - c.662-1G>T p.? - - - -
./. - - c.662-1_663del p.? - - - -
./. - - c.671C>T p.(Ala224Val) - - - -
./. - - c.706_707insA p.(Val236Aspfs*14) - - - -
?/? - 9/20 c.707T>A p.(Val236Asp) - missense_variant - -
./. - - c.707T>A p.(Val236Asp) - - - -
./. - - c.720G>A p.(=) - - - -
?/? - 9/20 c.733C>T p.(Arg245*) - stop_gained - -
./. - - c.733C>T p.(Arg245*) - - - -
?/? - 9/20 c.776T>A p.(Ile259Asn) - missense_variant - -
./. - - c.776T>A p.(Ile259Asn) - - - -
./. - - c.776T>C p.(Ile259Thr) - - - -
./. - - c.781-2A>G p.? - - - -
./. - - c.794G>C p.(Gly265Ala) - - - -
./. - - c.817G>A p.(Gly273Ser) - - - -
./. - - c.837G>A p.(=) - - - -
./. - - c.844G>A p.(Gly282Arg) - - - -
+/+ - 11/20 c.887T>C p.(Leu296Pro) - missense_variant - -
./. - - c.887T>C p.(Leu296Pro) - - - -
./. - - c.914del p.(Lys305Argfs*21) - - - -
./. - - c.934C>A p.(Gln312Lys) - - - -
./. - - c.948-3_954del p.? - - - -
./. - - c.994C>T p.(Gln332*) - - - -
+/+ - 12/20 c.994C>T p.(Gln332*) - stop_gained - -
./. - - c.1057C>T p.(Arg353*) - - - -
./. - - c.1058G>A p.(Arg353Gln) - - - -
./. - - c.1064del p.(Gln355Argfs*8) - - - -
./. - - c.1074G>C p.(=) - - - -
./. - - c.1082+5_1082+6insTAAG p.? - - - -
./. - - c.1083-1G>C p.? - - - -
./. - - c.1099A>T p.(Lys367*) - - - -
./. - - c.1206_1207del p.(Phe403*) - - - -
./. - - c.1254+10G>A p.(=) - - - -
./. - - c.1341+1G>T p.? - - - -
./. - - c.1355A>G p.(His452Arg) - - - -
./. - - c.1390G>C p.(Glu464Gln) - - - -
+/+ - 15/20 c.1390G>C p.(Glu464Gln) - missense_variant - -
./. - - c.1452del p.(Lys485Serfs*24) - - - -
./. - - c.1482+2_1482+6del p.? - - - -
./. - - c.1482+11G>C p.(=) - - - -
./. - - c.1499A>G p.(Tyr500Cys) - - - -
./. - - c.1517C>T p.(Ala506Val) - - - -
+/+ - 16/20 c.1540C>T p.(Arg514*) - stop_gained - -
./. - - c.1540C>T p.(Arg514*) - - - -
./. - - c.1552-14C>T p.(=) - - - -
./. - - c.1552-13G>A p.(=) - - - -
./. - - c.1552-6G>A p.(=) - - - -
./. - - c.1552-2A>G p.? - - - -
./. - - c.1570_1572del p.(Lys524del) - - - -
./. - - c.1574T>C p.(Leu525Pro) - - - -
./. - - c.1655_1656del p.(His552Argfs*33) - - - -
./. - - c.1656T>C p.(=) - - - -
./. - - c.1673del p.(Gly558Alafs*16) - - - -
./. - - c.1676_1677del p.(Lys559Serfs*26) - - - -
./. - - c.1690C>G p.(Arg564Gly) - - - -
./. - - c.1691G>A p.(Arg564Gln) - - - -
./. - - c.1774A>G p.(Ile592Val) - - - -
./. - - c.1777_1780del p.(Tyr593Argfs*4) - - - -
./. - - c.1780C>T p.(Gln594*) - - - -
./. - - c.1781_1782insTCA p.(Tyr593_Gln594insHis) - - - -
./. - - c.1821_1822insT p.(Ser608*) - - - -
./. - - c.1829del p.(Leu610*) - - - -
./. - - c.1843C>T p.(=) - - - -
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