Variant (rsID / SNP)

rs139927527

rs139927527 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASPM. Location: chromosome 1, position 197,057,551. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ASPMBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:197057551
Cytoband: 1q31.3
HGVS: NM_018136.5(ASPM):c.9996T>C (p.Thr3332=)
Allele change: Synonymous_T1747T

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.