Variant (rsID / SNP)
rs61750168
rs61750168 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GUCY2D. Location: chromosome 17, position 7,917,236. Clinical significance in the table: Pathogenic.
Reference-table entries
GUCY2DPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7917236
- Cytoband
- 17p13.1
- HGVS
- NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)
- Allele change
- Missense_R768W
Associated conditions / phenotypes
Cone-rod dystrophy 6|Leber congenital amaurosis 1|Leber congenital amaurosis 1|Leber congenital amaurosis|Night blindness, congenital stationary, type1i|Cone-rod dystrophy 6|Choroidal dystrophy, central areolar, 1|Leber congenital amaurosis 1|Retinal dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.