10:48390590-48390590 G > -

Classification

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

gene: RBP3 synonym(s): D10S64, D10S65, D10S66, IRBP, RBPI, RP66, RBP3, ENSG00000265203

OMIM
OMIM:180290: RBP3 (Autosomal recessive inheritance)
OMIM:615233: ?Retinitis pigmentosa 66

NM_002900.2 [CDS]
hgvs_c: NM_002900.2:c.288del
reference AA: P
variant AA: X
reference codon: ccC
variant codon: cc
cDNA pos: 402
CDS pos: 288
translation impact: frameshift
protein sequence: NP_002891.1
AA pos: 96
hgvs_p: NP_002891.1:p.Glu97SerfsTer48
blosum: -2

rs782634926

ExAC Non-Finnish, (1 / 66406), 0.00151%
gnomAD Swedish, (1 / 26120), 0.00383%