1:40539750-40539750 T > C

Classification

Category 3 non_synonymous
CMH MAF 35 / 14969 samples (0.234%)
35 het., 0 hom. (100%)
35 / 29938 total alleles (0.117%)

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

TRNAN-GUU [intron]

gene: PPT1 synonym(s): CLN1, INCL, PPT, PPT1, ENSG00000131238

OMIM
OMIM:600722: PPT1 (Autosomal recessive inheritance)
OMIM:256730: Ceroid lipofuscinosis, neuronal, 1

NM_000310.3 [CDS]
hgvs_c: NM_000310.3:c.904A>G
reference AA: I
variant AA: V
reference codon: Ata
variant codon: Gta
cDNA pos: 1136
CDS pos: 904
translation impact: non_synonymous
protein sequence: NP_000301.1
AA pos: 302
hgvs_p: NP_000301.1:p.Ile302Val
blosum: 3
SIFT: tolerated (0.32)
PolyPhen2: benign (0.016)

rs146902902
GMAF = 0.0003994
TOPMED_MAF = 0.00081230886850152

199009
clinvar_significance = Uncertain_significance
clinvar_disease = Ceroid lipofuscinosis neuronal 1
clinvar_disease = History of neurodevelopmental disorder
clinvar_disease = Neuronal Ceroid-Lipofuscinosis

EVS
EVS MAF (European American/African American/All) = 0.000698,0.000454,0.000615

ExAC Non-Finnish, (115 / 66730), 0.172%
gnomAD Bulgarian, (8 / 2668), 0.3%