1:7792679-7792679 C > T

Classification

Category 4 curation
CMH MAF 27 / 11946 samples (0.226%)
27 het., 0 hom. (100%)
27 / 23892 total alleles (0.113%)

gene: CAMTA1 synonym(s): CANPMR, CAMTA1, ENSG00000171735

OMIM
OMIM:611501: CAMTA1 (Autosomal dominant inheritance)
OMIM:614756: Cerebellar ataxia, nonprogressive, with mental retardation

NM_015215.2 [intron]
hgvs_c: NM_015215.2:c.3066+20C>T
splice impact: five_prime_intronic
protein sequence: NP_056030.1

rs147462930
GMAF = 0.002596
TOPMED_MAF = 0.00269973241590214

445323
clinvar_significance = Likely_benign

EVS
EVS MAF (European American/African American/All) = 0.000000,0.012040,0.004078

ExAC African, (68 / 5938), 1.15%
gnomAD African, (195 / 21644), 0.901% curated_classification = 4