Variant (rsID / SNP)
rs146207623
rs146207623 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLI2. Location: chromosome 2, position 121,747,823. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
GLI2Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:121747823
- Cytoband
- 2q14.2
- HGVS
- NM_001374353.1(GLI2):c.4282C>T (p.Leu1428Phe)
- Allele change
- Missense_L1445F
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.