Variant (rsID / SNP)

rs148193936

rs148193936 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STIL. Location: chromosome 1, position 47,726,135. 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: 1:47726135
Cytoband: 1p33
HGVS: NM_001048166.1(STIL):c.2906A>G (p.His969Arg)
Allele change: Missense_H968R

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.