11:6638385-6638385 C > G

Classification

Category 1
CMH MAF 10 / 11422 samples (0.0876%)
10 het., 0 hom. (100%)
10 / 22844 total alleles (0.0438%)

gene: TPP1 synonym(s): CLN2, GIG1, LPIC, TPP-1, TPP1, ENSG00000166340

OMIM
OMIM:607998: TPP1 (Autosomal recessive inheritance)
OMIM:204500: Ceroid lipofuscinosis, neuronal, 2
OMIM:609270: Spinocerebellar ataxia, autosomal recessive 7

NM_000391.3 [intron]
hgvs_c: NM_000391.3:c.509-1G>C
splice impact: acceptor_site
protein sequence: NP_000382.3

rs56144125
TOPMED_MAF = 0.00050172018348623

clinvar_disease = Inborn genetic diseases
clinvar_disease = Neuronal ceroid lipofuscinosis
clinvar_disease = Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
clinvar_disease = Ceroid lipofuscinosis neuronal 2
2644
clinvar_significance = Pathogenic
clinvar_submission_scv = SCV000511402.1

EVS
EVS MAF (European American/African American/All) = 0.001047,0.000000,0.000693

ExAC Non-Finnish, (41 / 66658), 0.0615%
gnomAD Non-Finnish, (105 / 126588), 0.0829%