Variant (rsID / SNP)

rs145419251

rs145419251 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLI3. Location: chromosome 7, position 42,004,161. 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: 7:42004161
Cytoband: 7p14.1
HGVS: NM_000168.6(GLI3):c.4510A>C (p.Ile1504Leu)
Allele change: Missense_I1504L

Associated conditions / phenotypes

Pallister-Hall syndrome|Greig cephalopolysyndactyly syndrome|Polydactyly|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.