1:10364260-10364260 A > G

Classification

Category 4 curation
CMH MAF 117 / 13144 samples (0.89%)
117 het., 0 hom. (100%)
117 / 26288 total alleles (0.445%)

gene: KIF1B synonym(s): CMT2, CMT2A, CMT2A1, HMSNII, KLP, NBLST1, KIF1B, ENSG00000054523

OMIM
OMIM:605995: KIF1B (Autosomal dominant inheritance,Heterogeneous)
OMIM:118210: ?Charcot-Marie-Tooth disease, type 2A1
OMIM:171300: Pheochromocytoma
OMIM:256700: {Neuroblastoma, susceptibility to, 1}

NM_015074.3 [intron]
hgvs_c: NM_015074.3:c.1977+6956A>G
protein sequence: NP_055889.2

rs148481786
GMAF = 0.002196
TOPMED_MAF = 0.00498534658511722

283154
clinvar_significance = Benign_Likely_benign

EVS
EVS MAF (European American/African American/All) = 0.006047,0.000454,0.004152

ExAC Finnish, (85 / 6614), 1.29%
gnomAD Ashkenazi Jewish, (290 / 10356), 2.8% curated_classification = 4