Variant (rsID / SNP)

rs112647911

rs112647911 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASPM. Location: chromosome 1, position 197,070,464. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ASPMBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:197070464
Cytoband: 1q31.3
HGVS: NM_018136.5(ASPM):c.7917A>G (p.Lys2639=)
Allele change: Silent

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.