Variant (rsID / SNP)

rs550062989

rs550062989 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STIL. Location: chromosome 1, position 47,717,160. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

STILBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:47717160
Cytoband: 1p33
HGVS: NM_001048166.1(STIL):c.3515C>T (p.Ser1172Phe)
Allele change: Missense_S1171F

Associated conditions / phenotypes

Microcephaly 7, 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.