Variant (rsID / SNP)

rs281875236

rs281875236 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPR179. Location: chromosome 17, position 36,499,014. Clinical significance in the table: Pathogenic.

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Reference-table entries

GPR179Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:36499014
Cytoband: 17q12
HGVS: NM_001004334.4(GPR179):c.659A>G (p.Tyr220Cys)
Allele change: Missense_Y220C

Associated conditions / phenotypes

Congenital stationary night blindness 1E

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.