Variant (rsID / SNP)

rs199422173

rs199422173 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASPM. Location: chromosome 1, position 197,070,598. Clinical significance in the table: Pathogenic.

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Reference-table entries

ASPMPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 1:197070598
Cytoband: 1q31.3
HGVS: NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs)

Associated conditions / phenotypes

Microcephaly 5, primary, autosomal recessive|Microcephaly 1, primary, autosomal recessive

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.