Variant (rsID / SNP)
rs2217332
rs2217332 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HERPUD1. Location: chromosome 16, position 56,969,148. The table records no clinical significance for this variant.
Reference-table entries
HERPUD1Not classified
- Variant type
- missense_variant&splice_region_variant
- Chromosome / position
- 16:56969148
- HGVS
- NM_014685.4,c.149G>A,p.Arg50His
- Allele change
- Missense_R50H
Associated conditions / phenotypes
Kuhnt-Junius Degeneration|Macular Degeneration, Age-Related, 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.