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Variant (rsID / SNP)

rs113777932

ASPM

rs113777932 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASPM. Location: chromosome 1, position 197,112,538. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ASPMConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:197112538
Cytoband
1q31.3
HGVS
NM_018136.5(ASPM):c.844A>C (p.Asn282His)
Allele change
Missense_N282H

Associated conditions / phenotypes

Microcephaly 5, primary, autosomal recessive

Public references

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