Variant (rsID / SNP)

rs149296029

rs149296029 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STIL. Location: chromosome 1, position 47,755,125. 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: 1:47755125
Cytoband: 1p33
HGVS: NM_001048166.1(STIL):c.1005A>G (p.Glu335=)
Allele change: Synonymous_E335E

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.