Variant (rsID / SNP)

rs202194355

rs202194355 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STIL. Location: chromosome 1, position 47,748,036. Clinical significance in the table: Uncertain significance.

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Reference-table entries

STILUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:47748036
Cytoband: 1p33
HGVS: NM_001048166.1(STIL):c.1229C>G (p.Pro410Arg)
Allele change: Missense_P410R

Associated conditions / phenotypes

Inborn genetic diseases|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.