Variant (rsID / SNP)

rs121917716

rs121917716 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLI3. Location: chromosome 7, position 42,007,506. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GLI3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:42007506
Cytoband: 7p14.1
HGVS: NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser)
Allele change: Missense_P707S

Associated conditions / phenotypes

Greig cephalopolysyndactyly syndrome|Hirschsprung disease, susceptibility to, 1|Pallister-Hall syndrome|Greig cephalopolysyndactyly 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.