1:197073821-197073821 G > -

Classification

Category 1 frameshift
CMH MAF 1 / 9594 samples (0.0104%)
1 het., 0 hom. (100%)
1 / 19188 total alleles (0.00521%)

gene: ASPM synonym(s): ASP, Calmbp1, MCPH5, ASPM, ENSG00000066279

OMIM
OMIM:605481: ASPM (Autosomal recessive inheritance)
OMIM:608716: Microcephaly 5, primary, autosomal recessive

NM_018136.4 [CDS]
hgvs_c: NM_018136.4:c.4560del
reference AA: Y
variant AA: X
reference codon: taC
variant codon: ta
cDNA pos: 4817
CDS pos: 4560
translation impact: frameshift
protein sequence: NP_060606.3
AA pos: 1520
hgvs_p: NP_060606.3:p.Tyr1521ThrfsTer5
blosum: -1

rs1402437185
TOPMED_MAF = 0.00000796381243628

gnomAD Non-Finnish, (1 / 111328), 0.000898%