Variant (rsID / SNP)
rs201066146
rs201066146 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASPM. Location: chromosome 1, position 197,102,632. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
ASPMBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:197102632
- Cytoband
- 1q31.3
- HGVS
- NM_018136.5(ASPM):c.2267A>G (p.Tyr756Cys)
- Allele change
- Missense_Y756C
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.