View 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

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.634T>A p.(Phe212Ile) possibly_damaging(0.811) missense_variant - deleterious(0)
+/+ - 7/11 c.636C>G p.(Phe212Leu) possibly_damaging(0.463) missense_variant - deleterious(0)
+/+ - 7/11 c.669A>C p.(Leu223Phe) probably_damaging(1) missense_variant - deleterious(0)
+/+ - 7/11 c.748T>A p.(Tyr250Asn) probably_damaging(0.985) missense_variant - deleterious(0)
./. - 7/11 c.751A>C p.(Lys251Gln) possibly_damaging(0.489) missense_variant - tolerated(0.1)
+/+ - 8/11 c.794A>C p.(Asp265Ala) probably_damaging(1) missense_variant - deleterious(0)
+/+ - 8/11 c.808C>G p.(Arg270Gly) probably_damaging(0.998) missense_variant - deleterious(0)
+/+ - 9/11 c.865A>C p.(Met289Leu) benign(0.016) missense_variant - tolerated(1)
+/+ - 9/11 c.884G>A p.(Arg295His) possibly_damaging(0.878) missense_variant - deleterious(0)
+/+ - 10/11 c.925C>T p.(Arg309Cys) benign(0.441) missense_variant - deleterious(0.02)
./. - - c.958_960del p.(Lys320del) - - - -
+/+ - 10/11 c.964G>A p.(Asp322Asn) probably_damaging(1) missense_variant - deleterious(0)
+/+ - 11/11 c.1154G>A p.(Arg385His) probably_damaging(0.97) missense_variant - deleterious(0)
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