Variant (rsID / SNP)

rs201070431

rs201070431 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLI3. Location: chromosome 7, position 42,065,833. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

GLI3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:42065833
Cytoband: 7p14.1
HGVS: NM_000168.6(GLI3):c.1207G>A (p.Val403Ile)
Allele change: Missense_V403I

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.