Variant (rsID / SNP)
rs147966258
rs147966258 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPR179. Location: chromosome 17, position 36,485,146. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
GPR179Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:36485146
- Cytoband
- 17q12
- HGVS
- NM_001004334.4(GPR179):c.4306C>T (p.Arg1436Trp)
- Allele change
- Missense_R1436W
Associated conditions / phenotypes
Congenital stationary night blindness 1E
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
