1:1277040-1277041 CA > -

Classification

Category 3 five_prime_flank
CMH MAF 51 / 11988 samples (0.425%)
50 het., 1 hom. (98%)
52 / 23976 total alleles (0.217%)

gene: DVL1 synonym(s): DVL, DVL1L1, DVL1P1, DVL1, ENSG00000107404

OMIM
OMIM:601365: DVL1
OMIM:616331: Robinow syndrome, autosomal dominant 2

NM_004421.2 [intron]
hgvs_c: NM_004421.2:c.605+6_605+7del
splice impact: five_prime_flank
protein sequence: NP_004412.2

rs573517540
GMAF = 0.004992
TOPMED_MAF = 0.00610824413863404

EVS
EVS MAF (European American/African American/All) = 0.001213,0.021586,0.008155

ExAC African, (183 / 9986), 1.83%
gnomAD African, (460 / 24782), 1.86%