Variant (rsID / SNP)

rs149248727

rs149248727 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLI3. Location: chromosome 7, position 42,063,079. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GLI3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 7:42063079
Cytoband: 7p14.1
HGVS: NM_000168.6(GLI3):c.1485G>A (p.Glu495=)
Allele change: Synonymous_E495E

Associated conditions / phenotypes

Greig cephalopolysyndactyly syndrome|Pallister-Hall syndrome|Polydactyly

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.