Variant (rsID / SNP)

rs62638625

rs62638625 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRM6. Location: chromosome 5, position 178,410,006. 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: 5:178410006
Cytoband: 5q35.3
HGVS: NM_000843.4(GRM6):c.2341G>A (p.Glu781Lys)
Allele change: Missense_E781K

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.