Variant (rsID / SNP)

rs770066665

rs770066665 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPR179. Location: chromosome 17, position 36,493,523. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GPR179Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: Deletion
Chromosome / position: 17:36493523
Cytoband: 17q12
HGVS: NM_001004334.4(GPR179):c.984del (p.Ser329fs)

Associated conditions / phenotypes

Congenital stationary night blindness 1E|Congenital stationary night blindness|Retinal dystrophy

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.