14:68191923-68191923 C > A

Classification

Category 1
CMH MAF 2 / 13144 samples (0.0152%)
2 het., 0 hom. (100%)
2 / 26288 total alleles (0.00761%)

gene: RDH12 synonym(s): LCA13, LCA3, RP53, SDR7C2, RDH12, ENSG00000139988

OMIM
OMIM:608830: RDH12 (Autosomal recessive inheritance)
OMIM:612712: Leber congenital amaurosis 13

NM_152443.2 [CDS]
hgvs_c: NM_152443.2:c.295C>A
reference AA: L
variant AA: I
reference codon: Cta
variant codon: Ata
cDNA pos: 619
CDS pos: 295
translation impact: non_synonymous
protein sequence: NP_689656.2
AA pos: 99
hgvs_p: NP_689656.2:p.Leu99Ile
blosum: 2
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.999)

rs28940315
GMAF = 0.0003994
TOPMED_MAF = 0.00001592762487257

2055
clinvar_significance = Pathogenic
clinvar_disease = Leber congenital amaurosis 13

EVS
EVS MAF (European American/African American/All) = 0.000116,0.000000,0.000077

ExAC America/Latino, (6 / 11578), 0.0518%
gnomAD America/Latino, (12 / 35440), 0.0339%