Transcript #00000820

Transcript name transcript variant 1
Gene name HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial))
Chromosome 1
Transcript - NCBI ID NM_005518.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_005509.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

40 entries on 1 page. Showing entries 1 - 40.
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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) - - - -
./. - - c.500A>G p.(Tyr167Cys) - - - -
+/+ - 2/10 c.500A>G p.(Tyr167Cys) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.520T>C p.(Phe174Leu) - - - -
+/+ - 2/10 c.520T>C p.(Phe174Leu) probably_damaging(0.997) missense_variant - tolerated(0.11)
./. - - c.595G>A p.(Val199Ile) - - - -
./. - - c.621C>T p.(=) - - - -
+/+ - 3/10 c.634G>A p.(Gly212Arg) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.634G>A p.(Gly212Arg) - - - -
./. - - c.772del p.(Ser258Profs*41) - - - -
./. - - c.851-14G>A p.(=) - - - -
./. - - c.858C>T p.(=) - - - -
./. - - c.862C>A p.(=) - - - -
./. - - c.1017-2del p.? - - - -
./. - - c.1078T>G p.(Ser360Ala) - - - -
./. - - c.1124C>G p.(Ser375Cys) - - - -
./. - - c.1236T>C p.(=) - - - -
+/+ - 7/10 c.1270C>T p.(Arg424*) - stop_gained - -
./. - - c.1270C>T p.(Arg424*) - - - -
./. - - c.1419G>A p.(=) - - - -
./. - - c.1420+13T>C p.(=) - - - -
./. - - c.1425T>C p.(=) - - - -
./. - - c.1499G>A p.(Arg500His) - - - -
+/+ - 9/10 c.1499G>A p.(Arg500His) benign(0.059) missense_variant - deleterious(0.01)
./. - - c.1513C>T p.(Arg505Trp) - - - -
./. - - c.1522G>A p.(Val508Ile) - - - -
./. - - c.*6-11_*6-8del p.(=) - - - -
./. - - c.*78A>G p.(=) - - - -
./. - - c.*165C>T p.(=) - - - -
./. - - c.*332A>C p.(=) - - - -
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