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Variant (rsID / SNP)

rs193251130

ASPM

rs193251130 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASPM. Location: chromosome 1, position 197,060,077. 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
1:197060077
Cytoband
1q31.3
HGVS
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro)
Allele change
Missense_Q1595P

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.