View 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

6 entries on 1 page. Showing entries 1 - 6.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
+/+ - 2/10 c.160G>A p.(Val54Met) probably_damaging(1) missense_variant - deleterious(0)
+/+ - 2/10 c.500A>G p.(Tyr167Cys) probably_damaging(1) missense_variant - deleterious(0)
+/+ - 2/10 c.520T>C p.(Phe174Leu) probably_damaging(0.997) missense_variant - tolerated(0.11)
+/+ - - c.560-633G>A p.(=) - - - -
+/+ - 6/9 c.1144C>T p.(Arg382*) - stop_gained - -
+/+ - 8/9 c.1373G>A p.(Arg458His) possibly_damaging(0.812) missense_variant - deleterious(0)
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