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Variant (rsID / SNP)

rs199422194

ASPM

rs199422194 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASPM. Location: chromosome 1, position 197,059,458. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ASPMPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:197059458
Cytoband
1q31.3
HGVS
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter)
Allele change
Nonsense_R1648X

Associated conditions / phenotypes

Microcephaly 5, primary, autosomal recessive|See cases

Public references

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