Variant (rsID / SNP)

rs199422147

rs199422147 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASPM. Location: chromosome 1, position 197,108,961. Clinical significance in the table: Pathogenic.

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Reference-table entries

ASPMPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Microsatellite
Chromosome / position: 1:197108961
Cytoband: 1q31.3
HGVS: NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs)

Associated conditions / phenotypes

Microcephaly 5, primary, autosomal recessive|Abnormality of the nervous system

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.