1:197070520-197070521 TC > -

Classification

Category 1
CMH MAF 2 / 9594 samples (0.0208%)
2 het., 0 hom. (100%)
2 / 19188 total alleles (0.0104%)

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.7860_7861del
reference AA: QI
variant AA: HX
reference codon: caGAtt
variant codon: catt
cDNA pos: 8117
CDS pos: 7860
translation impact: frameshift
protein sequence: NP_060606.3
AA pos: 2620
hgvs_p: NP_060606.3:p.Gln2620HisfsTer16
blosum: 0

rs199422174

21608
clinvar_significance = Pathogenic
clinvar_disease = Primary autosomal recessive microcephaly 5