Variant (rsID / SNP)
rs121434304
rs121434304 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRM6. Location: chromosome 5, position 178,416,076. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
GRM6Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:178416076
- Cytoband
- 5q35.3
- HGVS
- NM_000843.4(GRM6):c.1214T>C (p.Ile405Thr)
- Allele change
- Missense_I405T
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.