Variant (rsID / SNP)

rs199874115

rs199874115 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASPM. Location: chromosome 1, position 197,091,139. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ASPMUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:197091139
Cytoband: 1q31.3
HGVS: NM_018136.5(ASPM):c.3776G>A (p.Arg1259Lys)
Allele change: Missense_R1259K

Associated conditions / phenotypes

Microcephaly 5, primary, autosomal recessive|Intellectual disability

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.