1:197072197-197072198 TC > -

Classification

Category 1 ClinVar pathogenic variant
CMH MAF 1 / 13144 samples (0.00761%)
1 het., 0 hom. (100%)
1 / 26288 total alleles (0.0038%)

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.6183_6184del
reference AA: KK
variant AA: KX
reference codon: aaGAaa
variant codon: aaaa
cDNA pos: 6440
CDS pos: 6183
translation impact: frameshift
protein sequence: NP_060606.3
AA pos: 2061
hgvs_p: NP_060606.3:p.Lys2062IlefsTer5
blosum: 5

rs750664956

234435
clinvar_significance = Pathogenic

ExAC Non-Finnish, (2 / 66262), 0.00302%
gnomAD Other, (1 / 6082), 0.0164%