1:20981934-20981934 C > T

Classification

Category 3

non_synonymous

CMH MAF

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

Genes

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

TRNAN-GUU [intron] Reportable

gene: DDOST synonym(s): AGER1, CDG1R, OKSWcl45, OST, OST48, WBP1, DDOST, ENSG00000244038

ENST00000375048.3 [CDS] Reportable
hgvs_c: ENST00000375048.3:c.601G>A
reference AA: G
variant AA: R
reference codon: Ggg
variant codon: Agg
cDNA pos: 707
CDS pos: 601
splice impact: five_prime_exonic
translation impact: non_synonymous
protein sequence: ENSP00000399457.3
AA pos: 201
hgvs_p: ENSP00000364188.3:p.Gly201Arg
blosum: -2
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.919)

dbSNP

rs1166312788
TOPMED_MAF = 0.00000796381243628

ClinVar

445345
clinvar_significance = Uncertain_significance

gnomAD

gnomAD
Source: Genome

Ethnicity Count / Number MAF
African 2 / 8706 0.023%
America/Latino 0 / 846 0%
Ashkenazi Jewish 0 / 290 0%
East Asian 0 / 1558 0%
Finnish 0 / 3474 0%
Non-Finnish 0 / 15400 0%
Other 0 / 1084 0%
Estonian 0 / 4566 0%
North-Western European 0 / 8592 0%
Southern European 0 / 106 0%
Other non-Finnish European 0 / 2136 0%
Total MAF 2 / 31358 0.00638%


Export Variant

Curation

Uncertain Significance