Transcript #00000248

Transcript name transcript variant 4
Gene name PDHA1 (pyruvate dehydrogenase (lipoamide) alpha 1)
Chromosome X
Transcript - NCBI ID NM_001173456.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001166927.1
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.511-833T>G p.(=) - - - -
./. - 6/10 c.520T>A p.(Phe174Ile) possibly_damaging(0.678) missense_variant - deleterious(0)
+/+ - 6/10 c.522C>G p.(Phe174Leu) benign(0.297) missense_variant - deleterious(0)
./. - - c.522C>G p.(Phe174Leu) - - - -
./. - - c.547T>C p.(Trp183Arg) - - - -
+/+ - 6/10 c.555A>C p.(Leu185Phe) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.555A>C p.(Leu185Phe) - - - -
+/+ - 6/10 c.634T>A p.(Tyr212Asn) possibly_damaging(0.772) missense_variant - deleterious(0)
./. - - c.634T>A p.(Tyr212Asn) - - - -
./. - 6/10 c.637A>C p.(Lys213Gln) probably_damaging(0.911) missense_variant - tolerated(0.13)
./. - - c.666+26G>A p.(=) - - - -
+/+ - 7/10 c.680A>C p.(Asp227Ala) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.680A>C p.(Asp227Ala) - - - -
+/+ - 7/10 c.694C>G p.(Arg232Gly) possibly_damaging(0.892) missense_variant - deleterious(0)
./. - - c.694C>G p.(Arg232Gly) - - - -
+/+ - 8/10 c.751A>C p.(Met251Leu) benign(0.019) missense_variant - tolerated(0.75)
./. - - c.751A>C p.(Met251Leu) - - - -
./. - - c.768_769insT p.(Arg257Serfs*9) - - - -
+/+ - 8/10 c.770G>A p.(Arg257His) benign(0.344) missense_variant - deleterious(0)
./. - - c.770G>A p.(Arg257His) - - - -
./. - - c.807-5_807-4insATAGTTACCGTACACGAGAAG p.? - - - -
./. - - c.811C>T p.(Arg271Cys) - - - -
+/+ - 9/10 c.811C>T p.(Arg271Cys) benign(0.114) missense_variant - deleterious(0.02)
./. - - c.832_838del p.(Ser281Valfs*12) - - - -
./. - - c.837_839del p.(Arg280del) - - - -
./. - - c.844_846del p.(Lys282del) - - - -
./. - - c.844_846del p.(Lys282del) - - - -
./. - - c.850G>A p.(Asp284Asn) - - - -
+/+ - 9/10 c.850G>A p.(Asp284Asn) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.977_996del p.(Glu327Glyfs*12) - - - -
./. - - c.980_981insGCCACCTTTGGAAGAGCTGGGCTACCACATCTACTC p.(Pro328_Ser339dup) - - - -
./. - - c.1039C>T p.(Arg347Cys) - - - -
./. - - c.1040G>A p.(Arg347His) - - - -
+/+ - 10/10 c.1040G>A p.(Arg347His) probably_damaging(0.983) missense_variant - deleterious(0)
./. - - c.1046_1047insCAAT p.(Trp352Serfs*6) - - - -
./. - - c.1066_1067del p.(Lys356Valfs*44) - - - -
./. - - c.1067_1070del p.(Ser359Lysfs*33) - - - -
./. - - c.*78_*79insAGTCAATGAAAT p.(=) - - - -
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