11:64496517-64496517 G > T

Classification

Category 5
CMH MAF 155 / 12009 samples (1.29%)
151 het., 4 hom. (97.4%)
159 / 24018 total alleles (0.662%)

gene: RASGRP2 synonym(s): CALDAG-GEFI, CDC25L, RASGRP2, ENSG00000068831

OMIM
OMIM:605577: RASGRP2
OMIM:615888: ?Bleeding disorder, platelet-type, 18

NM_153819.1 [intron]
hgvs_c: NM_153819.1:c.1592-3C>A
protein sequence: NP_722541.1

rs75902820
GMAF = 0.02276
TOPMED_MAF = 0.01929631753312945

EVS
EVS MAF (European American/African American/All) = 0.000815,0.052524,0.018319

ExAC African, (508 / 6262), 8.11%
COSMIC Mutation ID = COSV62451333
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true

gnomAD African, (1416 / 22716), 6.23%