1:40318515-40318515 G > A

Classification

Category 2 premature_stop
CMH MAF 2 / 13144 samples (0.0152%)
2 het., 0 hom. (100%)
2 / 26288 total alleles (0.00761%)

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

TRNAN-GUU [intron]

gene: TRIT1 synonym(s): IPT, MOD5, TRIT1, ENSG00000043514

OMIM
OMIM:617840: TRIT1
OMIM:617873: Combined oxidative phosphorylation deficiency 35

NM_017646.4 [CDS]
hgvs_c: NM_017646.4:c.448C>T
reference AA: R
variant AA: *
reference codon: Cga
variant codon: Tga
cDNA pos: 462
CDS pos: 448
translation impact: premature_stop
protein sequence: NP_060116.2
AA pos: 150
hgvs_p: NP_060116.2:p.Arg150Ter
blosum: -4

COSMIC Mutation ID = COSV57547469
COSMIC_MUTATION_SOMATIC_STATUS = true