1:161928377-161928377 T > G

Classification

Category 3 non_synonymous
CMH MAF 2 / 13144 samples (0.0152%)
2 het., 0 hom. (100%)
2 / 26288 total alleles (0.00761%)

gene: ATF6 synonym(s): ATF6A, ATF6, ENSG00000118217

OMIM
OMIM:605537: ATF6
OMIM:616517: Achromatopsia 7

NM_007348.3 [CDS]
hgvs_c: NM_007348.3:c.1946T>G
reference AA: F
variant AA: C
reference codon: tTt
variant codon: tGt
cDNA pos: 2063
CDS pos: 1946
translation impact: non_synonymous
protein sequence: NP_031374.2
AA pos: 649
hgvs_p: NP_031374.2:p.Phe649Cys
blosum: -2
SIFT: deleterious (0.01)
PolyPhen2: possibly_damaging (0.711)

rs201204499
TOPMED_MAF = 0.00000796381243628

ExAC Non-Finnish, (1 / 66630), 0.0015%
gnomAD Other non-Finnish European, (1 / 30978), 0.00323%