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

14 entries on 1 page. Showing entries 1 - 14.
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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)
./. - 7/11 c.613T>A p.(Phe205Ile) possibly_damaging(0.811) missense_variant - deleterious(0)
+/+ - 7/11 c.615C>G p.(Phe205Leu) possibly_damaging(0.463) missense_variant - deleterious(0)
+/+ - 7/11 c.648A>C p.(Leu216Phe) probably_damaging(1) missense_variant - deleterious(0)
+/+ - 7/11 c.727T>A p.(Tyr243Asn) probably_damaging(0.977) missense_variant - deleterious(0)
./. - 7/11 c.730A>C p.(Lys244Gln) possibly_damaging(0.489) missense_variant - tolerated(0.09)
+/+ - 8/11 c.773A>C p.(Asp258Ala) probably_damaging(1) missense_variant - deleterious(0)
+/+ - 8/11 c.787C>G p.(Arg263Gly) probably_damaging(0.997) missense_variant - deleterious(0)
+/+ - 9/11 c.844A>C p.(Met282Leu) benign(0.037) missense_variant - tolerated(1)
+/+ - 9/11 c.863G>A p.(Arg288His) benign(0.357) missense_variant - deleterious(0)
+/+ - 10/11 c.904C>T p.(Arg302Cys) possibly_damaging(0.618) missense_variant - deleterious(0.02)
./. - - c.937_939del p.(Lys313del) - - - -
+/+ - 10/11 c.943G>A p.(Asp315Asn) probably_damaging(1) missense_variant - deleterious(0)
+/+ - 11/11 c.1133G>A p.(Arg378His) probably_damaging(0.985) missense_variant - deleterious(0)
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