Variant (rsID / SNP)
rs1801154
rs1801154 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLRB. Location: chromosome 4, position 158,073,913. Clinical significance in the table: Benign.
Reference-table entries
GLRBBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:158073913
- Cytoband
- 4q32.1
- HGVS
- NM_000824.5(GLRB):c.948T>C (p.Leu316=)
- Allele change
- Silent
Associated conditions / phenotypes
Hyperekplexia 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.