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Variant (rsID / SNP)

rs149091975

GLI2

rs149091975 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLI2. Location: chromosome 2, position 121,744,056. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GLI2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:121744056
Cytoband
2q14.2
HGVS
NM_001374353.1(GLI2):c.2108G>A (p.Arg703His)
Allele change
Missense_R720H

Associated conditions / phenotypes

Holoprosencephaly 1|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.