1:68897002-68897002 G > A

Classification

Category 5 curation
CMH MAF 168 / 13144 samples (1.28%)
161 het., 7 hom. (95.8%)
175 / 26288 total alleles (0.666%)

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

TRNAN-GUU [intron]

gene: RPE65 synonym(s): LCA2, mRPE65, rd12, RP20, sRPE65, RPE65, ENSG00000116745

OMIM
OMIM:180069: RPE65 (Autosomal recessive inheritance)
OMIM:204100: Leber congenital amaurosis 2
OMIM:613794: Retinitis pigmentosa 20
OMIM:618697: Retinitis pigmentosa 87 with choroidal involvement

NM_000329.2 [CDS]
hgvs_c: NM_000329.2:c.1301C>T
reference AA: A
variant AA: V
reference codon: gCg
variant codon: gTg
cDNA pos: 1355
CDS pos: 1301
translation impact: non_synonymous
protein sequence: NP_000320.1
AA pos: 434
hgvs_p: NP_000320.1:p.Ala434Val
blosum: 0
SIFT: tolerated (0.16)
PolyPhen2: benign (0.016)

rs34627040
GMAF = 0.02516
TOPMED_MAF = 0.02289596075433231

98836
clinvar_significance = Benign
clinvar_disease = Leber congenital amaurosis 2
clinvar_disease = Retinitis pigmentosa 20

EVS
EVS MAF (European American/African American/All) = 0.000233,0.075125,0.025604

ExAC African, (813 / 10400), 7.82%
gnomAD African, (1976 / 24962), 7.92% curated_classification = 5