1:17739592-17739592 C > T

Classification

Category 3 premature_stop
CMH MAF 6 / 13105 samples (0.0458%)
6 het., 0 hom. (100%)
6 / 26210 total alleles (0.0229%)

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

TRNAN-GUU [intron]

gene: RCC2 synonym(s): TD-60, RCC2, ENSG00000179051

NM_018715.3 [CDS]
hgvs_c: NM_018715.3:c.1290G>A
reference AA: W
variant AA: *
reference codon: tgG
variant codon: tgA
cDNA pos: 1508
CDS pos: 1290
translation impact: premature_stop
protein sequence: NP_061185.1
AA pos: 430
hgvs_p: NP_061185.1:p.Trp430Ter
blosum: -4