Variant (rsID / SNP)

rs62638208

rs62638208 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRM6. Location: chromosome 5, position 178,413,690. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GRM6Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:178413690
Cytoband: 5q35.3
HGVS: NM_000843.4(GRM6):c.1565G>A (p.Cys522Tyr)
Allele change: Missense_C522Y

Associated conditions / phenotypes

Congenital stationary night blindness 1B

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.