Transcript #00000247

Transcript name transcript variant 1
Gene name PDHA1 (pyruvate dehydrogenase (lipoamide) alpha 1)
Chromosome X
Transcript - NCBI ID NM_000284.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000275.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

48 entries on 1 page. Showing entries 1 - 48.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
+/+ - 1/6 c.29G>C p.(Arg10Pro) benign(0.262) missense_variant - deleterious(0.02)
./. - - c.29G>C p.(Arg10Pro) - - - -
./. - - c.292-23A>G p.(=) - - - -
./. - - c.422G>A p.(Arg141Gln) - - - -
./. - - c.427G>A p.(Gly143Arg) - - - -
./. - - c.434G>A p.(Cys145Tyr) - - - -
./. - - c.455C>T p.(Ser152Leu) - - - -
./. - - c.461A>G p.(His154Arg) - - - -
./. - - c.491A>G p.(Asn164Ser) - - - -
./. - - c.506C>T p.(Ala169Val) - - - -
./. - - c.536T>G p.(Leu179Arg) - - - -
./. - 7/11 c.613T>A p.(Phe205Ile) possibly_damaging(0.811) missense_variant - deleterious(0)
./. - - c.615C>G p.(Phe205Leu) - - - -
+/+ - 7/11 c.615C>G p.(Phe205Leu) possibly_damaging(0.463) missense_variant - deleterious(0)
./. - - c.640T>C p.(Trp214Arg) - - - -
+/+ - 7/11 c.648A>C p.(Leu216Phe) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.648A>C p.(Leu216Phe) - - - -
+/+ - 7/11 c.727T>A p.(Tyr243Asn) probably_damaging(0.977) missense_variant - deleterious(0)
./. - - c.727T>A p.(Tyr243Asn) - - - -
./. - 7/11 c.730A>C p.(Lys244Gln) possibly_damaging(0.489) missense_variant - tolerated(0.09)
./. - - c.759+26G>A p.(=) - - - -
+/+ - 8/11 c.773A>C p.(Asp258Ala) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.773A>C p.(Asp258Ala) - - - -
+/+ - 8/11 c.787C>G p.(Arg263Gly) probably_damaging(0.997) missense_variant - deleterious(0)
./. - - c.787C>G p.(Arg263Gly) - - - -
+/+ - 9/11 c.844A>C p.(Met282Leu) benign(0.037) missense_variant - tolerated(1)
./. - - c.844A>C p.(Met282Leu) - - - -
./. - - c.861_862insT p.(Arg288Serfs*9) - - - -
./. - - c.863G>A p.(Arg288His) - - - -
+/+ - 9/11 c.863G>A p.(Arg288His) benign(0.357) missense_variant - deleterious(0)
./. - - c.900-5_900-4insATAGTTACCGTACACGAGAAG p.? - - - -
./. - - c.904C>T p.(Arg302Cys) - - - -
+/+ - 10/11 c.904C>T p.(Arg302Cys) possibly_damaging(0.618) missense_variant - deleterious(0.02)
./. - - c.925_931del p.(Ser312Valfs*12) - - - -
./. - - c.930_932del p.(Arg311del) - - - -
./. - - c.937_939del p.(Lys313del) - - - -
./. - - c.937_939del p.(Lys313del) - - - -
+/+ - 10/11 c.943G>A p.(Asp315Asn) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.943G>A p.(Asp315Asn) - - - -
./. - - c.1070_1089del p.(Glu358Glyfs*12) - - - -
./. - - c.1073_1074insGCCACCTTTGGAAGAGCTGGGCTACCACATCTACTC p.(Pro359_Ser370dup) - - - -
./. - - c.1132C>T p.(Arg378Cys) - - - -
+/+ - 11/11 c.1133G>A p.(Arg378His) probably_damaging(0.985) missense_variant - deleterious(0)
./. - - c.1133G>A p.(Arg378His) - - - -
./. - - c.1139_1140insCAAT p.(Trp383Serfs*6) - - - -
./. - - c.1159_1160del p.(Lys387Valfs*44) - - - -
./. - - c.1160_1163del p.(Ser390Lysfs*33) - - - -
./. - - c.*78_*79insAGTCAATGAAAT p.(=) - - - -
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