10:86007496-86007496 C > T

Classification

Category 5 non_synonymous
CMH MAF 11 / 13144 samples (0.0837%)
11 het., 0 hom. (100%)
11 / 26288 total alleles (0.0418%)

gene: RGR synonym(s): RP44, RGR, ENSG00000148604

OMIM
OMIM:600342: RGR (Autosomal dominant inheritance)
OMIM:613769: Retinitis pigmentosa 44

NM_001012720.1 [CDS]
hgvs_c: NM_001012720.1:c.229C>T
reference AA: L
variant AA: F
reference codon: Ctt
variant codon: Ttt
cDNA pos: 267
CDS pos: 229
translation impact: non_synonymous
protein sequence: NP_001012738.1
AA pos: 77
hgvs_p: NP_001012738.1:p.Leu77Phe
blosum: 0

rs146536539
GMAF = 0.0001997
TOPMED_MAF = 0.00047782874617737

301317
clinvar_significance = Uncertain_significance
clinvar_disease = Retinitis Pigmentosa

EVS
EVS MAF (European American/African American/All) = 0.000465,0.000227,0.000384

ExAC Non-Finnish, (28 / 66664), 0.042%
gnomAD North-Western European, (51 / 50756), 0.1%