Transcript #00000246

Transcript name transcript variant 3
Gene name PDHA1 (pyruvate dehydrogenase (lipoamide) alpha 1)
Chromosome X
Transcript - NCBI ID NM_001173455.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001166926.1
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.292-2A>G p.? - - - -
./. - - c.443G>A p.(Arg148Gln) - - - -
./. - - c.448G>A p.(Gly150Arg) - - - -
./. - - c.455G>A p.(Cys152Tyr) - - - -
./. - - c.476C>T p.(Ser159Leu) - - - -
./. - - c.482A>G p.(His161Arg) - - - -
./. - - c.512A>G p.(Asn171Ser) - - - -
./. - - c.527C>T p.(Ala176Val) - - - -
./. - - c.557T>G p.(Leu186Arg) - - - -
./. - 7/11 c.634T>A p.(Phe212Ile) possibly_damaging(0.811) missense_variant - deleterious(0)
./. - - c.636C>G p.(Phe212Leu) - - - -
+/+ - 7/11 c.636C>G p.(Phe212Leu) possibly_damaging(0.463) missense_variant - deleterious(0)
./. - - c.661T>C p.(Trp221Arg) - - - -
+/+ - 7/11 c.669A>C p.(Leu223Phe) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.669A>C p.(Leu223Phe) - - - -
+/+ - 7/11 c.748T>A p.(Tyr250Asn) probably_damaging(0.985) missense_variant - deleterious(0)
./. - - c.748T>A p.(Tyr250Asn) - - - -
./. - 7/11 c.751A>C p.(Lys251Gln) possibly_damaging(0.489) missense_variant - tolerated(0.1)
./. - - c.780+26G>A p.(=) - - - -
+/+ - 8/11 c.794A>C p.(Asp265Ala) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.794A>C p.(Asp265Ala) - - - -
+/+ - 8/11 c.808C>G p.(Arg270Gly) probably_damaging(0.998) missense_variant - deleterious(0)
./. - - c.808C>G p.(Arg270Gly) - - - -
+/+ - 9/11 c.865A>C p.(Met289Leu) benign(0.016) missense_variant - tolerated(1)
./. - - c.865A>C p.(Met289Leu) - - - -
./. - - c.882_883insT p.(Arg295Serfs*9) - - - -
+/+ - 9/11 c.884G>A p.(Arg295His) possibly_damaging(0.878) missense_variant - deleterious(0)
./. - - c.884G>A p.(Arg295His) - - - -
./. - - c.921-5_921-4insATAGTTACCGTACACGAGAAG p.? - - - -
./. - - c.925C>T p.(Arg309Cys) - - - -
+/+ - 10/11 c.925C>T p.(Arg309Cys) benign(0.441) missense_variant - deleterious(0.02)
./. - - c.946_952del p.(Ser319Valfs*12) - - - -
./. - - c.951_953del p.(Arg318del) - - - -
./. - - c.958_960del p.(Lys320del) - - - -
./. - - c.958_960del p.(Lys320del) - - - -
./. - - c.964G>A p.(Asp322Asn) - - - -
+/+ - 10/11 c.964G>A p.(Asp322Asn) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.1091_1110del p.(Glu365Glyfs*12) - - - -
./. - - c.1094_1095insGCCACCTTTGGAAGAGCTGGGCTACCACATCTACTC p.(Pro366_Ser377dup) - - - -
./. - - c.1153C>T p.(Arg385Cys) - - - -
+/+ - 11/11 c.1154G>A p.(Arg385His) probably_damaging(0.97) missense_variant - deleterious(0)
./. - - c.1154G>A p.(Arg385His) - - - -
./. - - c.1160_1161insCAAT p.(Trp390Serfs*6) - - - -
./. - - c.1180_1181del p.(Lys394Valfs*44) - - - -
./. - - c.1181_1184del p.(Ser397Lysfs*33) - - - -
./. - - c.*78_*79insAGTCAATGAAAT p.(=) - - - -
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