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Variant (rsID / SNP)

rs139912214

STIL

rs139912214 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STIL. Location: chromosome 1, position 47,746,675. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

STILConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:47746675
Cytoband
1p33
HGVS
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe)
Allele change
Missense_L485F

Associated conditions / phenotypes

Inborn genetic diseases|Abnormality of brain morphology|Microcephaly 7, primary, autosomal recessive

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.