Transcript #00000788

Transcript name transcript variant X2
Gene name HADHA (hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit)
Chromosome 2
Transcript - NCBI ID XM_005264276.1
Transcript - Ensembl ID -
Protein - NCBI ID XP_005264333.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

86 entries on 1 page. Showing entries 1 - 86.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.-328C>T p.(=) - - - -
./. - - c.-316G>A p.(=) - - - -
./. - - c.-295del p.(=) - - - -
./. - - c.-164T>C p.(=) - - - -
./. - - c.-127A>G p.(=) - - - -
./. - - c.-112G>C p.(=) - - - -
./. - - c.-60-10T>G p.(=) - - - -
./. - - c.-49C>T p.(=) - - - -
./. - - c.30C>T p.(=) - - - -
./. - - c.53+1G>A p.? - - - -
./. - - c.53+3A>G p.? - - - -
./. - - c.53+2005G>A p.(=) - - - -
./. - - c.53+2029C>T p.(=) - - - -
./. - - c.53+2039_53+2043del p.(=) - - - -
./. - - c.142A>G p.(Lys48Glu) - - - -
./. - - c.192+1G>A p.? - - - -
./. - - c.193-13C>T p.(=) - - - -
./. - - c.213C>T p.(=) - - - -
./. - - c.254del p.(Pro85Leufs*29) - - - -
./. - - c.299G>C p.(Arg100Thr) - - - -
./. - - c.312+8_312+9insT p.(=) - - - -
./. - - c.324T>A p.(=) - - - -
./. - - c.328G>T p.(Ala110Ser) - - - -
./. - - c.415+2T>C p.? - - - -
./. - - c.415+6T>C p.(=) - - - -
./. - - c.442C>T p.(Arg148Trp) - - - -
./. - - c.548C>T p.(Ala183Val) - - - -
./. - - c.584T>A p.(Val195Asp) - - - -
?/? - 8/19 c.584T>A p.(Val195Asp) - missense_variant - -
./. - - c.597G>A p.(=) - - - -
?/? - 8/19 c.610C>T p.(Arg204*) - stop_gained - -
./. - - c.610C>T p.(Arg204*) - - - -
?/? - 8/19 c.653T>A p.(Ile218Asn) - missense_variant - -
./. - - c.653T>A p.(Ile218Asn) - - - -
./. - - c.658-2A>G p.? - - - -
./. - - c.671G>C p.(Gly224Ala) - - - -
./. - - c.764T>C p.(Leu255Pro) - - - -
+/+ - 10/19 c.764T>C p.(Leu255Pro) - missense_variant - -
./. - - c.791del p.(Lys264Argfs*21) - - - -
./. - - c.811C>A p.(Gln271Lys) - - - -
./. - - c.825-3_831del p.? - - - -
+/+ - 11/19 c.871C>T p.(Gln291*) - stop_gained - -
./. - - c.871C>T p.(Gln291*) - - - -
./. - - c.941del p.(Gln314Argfs*8) - - - -
./. - - c.951G>C p.(=) - - - -
./. - - c.960-1G>C p.? - - - -
./. - - c.976A>T p.(Lys326*) - - - -
./. - - c.1083_1084del p.(Phe362*) - - - -
./. - - c.1131+10G>A p.(=) - - - -
./. - - c.1267G>C p.(Glu423Gln) - - - -
+/+ - 14/19 c.1267G>C p.(Glu423Gln) - missense_variant - -
./. - - c.1329del p.(Lys444Serfs*24) - - - -
./. - - c.1359+11G>C p.(=) - - - -
./. - - c.1394C>T p.(Ala465Val) - - - -
+/+ - 15/19 c.1417C>T p.(Arg473*) - stop_gained - -
./. - - c.1417C>T p.(Arg473*) - - - -
./. - - c.1429-14C>T p.(=) - - - -
./. - - c.1429-13G>A p.(=) - - - -
./. - - c.1429-6G>A p.(=) - - - -
./. - - c.1429-2A>G p.? - - - -
./. - - c.1532_1533del p.(His511Argfs*33) - - - -
./. - - c.1533T>C p.(=) - - - -
./. - - c.1550del p.(Gly517Alafs*16) - - - -
./. - - c.1568G>A p.(Arg523Gln) - - - -
./. - - c.1651A>G p.(Ile551Val) - - - -
./. - - c.1654_1657del p.(Tyr552Argfs*4) - - - -
./. - - c.1657C>T p.(Gln553*) - - - -
./. - - c.1706del p.(Leu569*) - - - -
./. - - c.1720C>T p.(=) - - - -
./. - - c.1720_1738del p.(Leu574Serfs*12) - - - -
./. - - c.1810G>T p.(Glu604*) - - - -
./. - - c.1852G>A p.(Val618Ile) - - - -
./. - - c.1885+1G>A p.? - - - -
./. - - c.1885+2T>C p.? - - - -
./. - - c.1886-8C>G p.(=) - - - -
./. - - c.1967_1968insAACA p.(Phe657Thrfs*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.(=) - - - -
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