Variant (rsID / SNP)

rs199422189

rs199422189 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASPM. Location: chromosome 1, position 197,060,059. Clinical significance in the table: Pathogenic.

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Reference-table entries

ASPMPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:197060059
Cytoband: 1q31.3
HGVS: NM_018136.5(ASPM):c.9557C>G (p.Ser3186Ter)
Allele change: Nonsense_S1601X

Associated conditions / phenotypes

Microcephaly 5, 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.