11:119145667-119145667 A > G

Classification

Category 5 curation
CMH MAF 149 / 11996 samples (1.24%)
146 het., 3 hom. (98%)
152 / 23992 total alleles (0.634%)

gene: CBL synonym(s): C-CBL, CBL2, FRA11B, NSLL, RNF55, CBL, ENSG00000110395

OMIM
OMIM:165360: CBL
OMIM:607785: ?Juvenile myelomonocytic leukemia
OMIM:613563: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia

NM_005188.3 [intron]
hgvs_c: NM_005188.3:c.869+4A>G
splice impact: five_prime_flank
protein sequence: NP_005179.2

rs77284821
GMAF = 0.02416
TOPMED_MAF = 0.02063423802242609

EVS
EVS MAF (European American/African American/All) = 0.000116,0.069577,0.023637

ExAC African, (712 / 10390), 6.85%
gnomAD African, (1692 / 24948), 6.78% curated_classification = 5