Variant (rsID / SNP)

rs186337909

rs186337909 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLI3. Location: chromosome 7, position 42,085,066. Clinical significance in the table: Likely benign.

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Reference-table entries

GLI3Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:42085066
Cytoband: 7p14.1
HGVS: NM_000168.6(GLI3):c.743G>A (p.Arg248His)
Allele change: Missense_R248H

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.