Variant (rsID / SNP)

rs79049330

rs79049330 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLI3. Location: chromosome 7, position 42,005,588. Clinical significance in the table: Benign.

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Reference-table entries

GLI3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:42005588
Cytoband: 7p14.1
HGVS: NM_000168.6(GLI3):c.3083G>T (p.Ser1028Ile)
Allele change: Missense_S1028I

Associated conditions / phenotypes

Polydactyly|Greig cephalopolysyndactyly syndrome|Pallister-Hall syndrome

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.