Variant (rsID / SNP)

rs144049904

rs144049904 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASPM. Location: chromosome 1, position 197,111,665. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ASPMConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:197111665
Cytoband: 1q31.3
HGVS: NM_018136.5(ASPM):c.1717C>T (p.Arg573Trp)
Allele change: Missense_R573W

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.