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Variant (rsID / SNP)

rs114814747

GLI2

rs114814747 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLI2. Location: chromosome 2, position 121,748,048. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

GLI2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
2:121748048
Cytoband
2q14.2
HGVS
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn)
Allele change
Missense_D1520N

Associated conditions / phenotypes

Holoprosencephaly 9|Holoprosencephaly 9|Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.