Variant (rsID / SNP)

rs137852997

rs137852997 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASPM. Location: chromosome 1, position 197,072,192. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ASPMPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:197072192
Cytoband: 1q31.3
HGVS: NM_018136.5(ASPM):c.6189T>G (p.Tyr2063Ter)
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.