Variant (rsID / SNP)

rs140975915

rs140975915 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STIL. Location: chromosome 1, position 47,735,551. Clinical significance in the table: Benign.

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Reference-table entries

STILBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:47735551
Cytoband: 1p33
HGVS: NM_001048166.1(STIL):c.2384-13A>G
Allele change: Silent

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.