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Variant (rsID / SNP)

rs13008360

GLI2

rs13008360 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLI2. Location: chromosome 2, position 121,742,307. Clinical significance in the table: Benign.

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Reference-table entries

GLI2Benign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
2:121742307
Cytoband
2q14.2
HGVS
NM_001374353.1(GLI2):c.1893C>T (p.Thr631=)
Allele change
Synonymous_T648T

Associated conditions / phenotypes

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

Public references

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