Transcript #00000819

Transcript name transcript variant 2
Gene name HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial))
Chromosome 1
Transcript - NCBI ID NM_001166107.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001159579.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

40 entries on 1 page. Showing entries 1 - 40.
Legend  

Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.-36T>G p.(=) - - - -
./. - - c.-11C>T p.(=) - - - -
./. - - c.26A>G p.(Lys9Arg) - - - -
./. - - c.73C>G p.(Pro25Ala) - - - -
./. - - c.88C>G p.(Pro30Ala) - - - -
./. - - c.95C>T p.(Ala32Val) - - - -
+/+ - 2/10 c.160G>A p.(Val54Met) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.160G>A p.(Val54Met) - - - -
./. - - c.174C>T p.(=) - - - -
./. - - c.270G>A p.(=) - - - -
./. - - c.275G>A p.(Arg92His) - - - -
+/+ - 2/10 c.500A>G p.(Tyr167Cys) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.500A>G p.(Tyr167Cys) - - - -
./. - - c.520T>C p.(Phe174Leu) - - - -
+/+ - 2/10 c.520T>C p.(Phe174Leu) probably_damaging(0.997) missense_variant - tolerated(0.11)
./. - - c.560-672G>A p.(=) - - - -
./. - - c.560-646C>T p.(=) - - - -
+/+ - - c.560-633G>A p.(=) - - - -
./. - - c.560-633G>A p.(=) - - - -
./. - - c.646del p.(Ser216Profs*41) - - - -
./. - - c.725-14G>A p.(=) - - - -
./. - - c.732C>T p.(=) - - - -
./. - - c.736C>A p.(=) - - - -
./. - - c.891-2del p.? - - - -
./. - - c.952T>G p.(Ser318Ala) - - - -
./. - - c.998C>G p.(Ser333Cys) - - - -
./. - - c.1110T>C p.(=) - - - -
./. - - c.1144C>T p.(Arg382*) - - - -
+/+ - 6/9 c.1144C>T p.(Arg382*) - stop_gained - -
./. - - c.1293G>A p.(=) - - - -
./. - - c.1294+13T>C p.(=) - - - -
./. - - c.1299T>C p.(=) - - - -
+/+ - 8/9 c.1373G>A p.(Arg458His) possibly_damaging(0.812) missense_variant - deleterious(0)
./. - - c.1373G>A p.(Arg458His) - - - -
./. - - c.1387C>T p.(Arg463Trp) - - - -
./. - - c.1396G>A p.(Val466Ile) - - - -
./. - - c.*6-11_*6-8del p.(=) - - - -
./. - - c.*78A>G p.(=) - - - -
./. - - c.*165C>T p.(=) - - - -
./. - - c.*332A>C p.(=) - - - -
Legend