Variant (rsID / SNP)
rs2067011
rs2067011 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRM6. Location: chromosome 5, position 178,415,937. Clinical significance in the table: Benign.
Reference-table entries
GRM6Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:178415937
- Cytoband
- 5q35.3
- HGVS
- NM_000843.4(GRM6):c.1353T>C (p.Asn451=)
- Allele change
- Synonymous_N451N
Associated conditions / phenotypes
Congenital stationary night blindness 1B
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.