Variant (rsID / SNP)
rs148043302
rs148043302 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLI3. Location: chromosome 7, position 42,004,909. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
GLI3Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:42004909
- Cytoband
- 7p14.1
- HGVS
- NM_000168.6(GLI3):c.3762T>C (p.Tyr1254=)
- Allele change
- Synonymous_Y1254Y
Associated conditions / phenotypes
Pallister-Hall syndrome|Polydactyly|Greig cephalopolysyndactyly syndrome|Greig cephalopolysyndactyly syndrome|Pallister-Hall syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.