1:120302490-120302490 G > A

Classification

Category 2 premature_stop
CMH MAF 4 / 13144 samples (0.0304%)
4 het., 0 hom. (100%)
4 / 26288 total alleles (0.0152%)

gene: TRNAN-GUU synonym(s): TRNAN-GUU

TRNAN-GUU [intron]

gene: HMGCS2 synonym(s): HMGCS2, ENSG00000134240

OMIM
OMIM:600234: HMGCS2
OMIM:605911: HMG-CoA synthase-2 deficiency

NM_005518.3 [CDS]
hgvs_c: NM_005518.3:c.682C>T
reference AA: R
variant AA: *
reference codon: Cga
variant codon: Tga
cDNA pos: 770
CDS pos: 682
translation impact: premature_stop
protein sequence: NP_005509.1
AA pos: 228
hgvs_p: NP_005509.1:p.Arg228Ter
blosum: -4

rs763531478
TOPMED_MAF = 0.00003981906218144

ExAC Non-Finnish, (1 / 66622), 0.0015%
gnomAD America/Latino, (3 / 35434), 0.00847%