Variant (rsID / SNP)

rs140263599

rs140263599 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNB3. Location: chromosome 12, position 6,952,237. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GNB3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:6952237
Cytoband: 12p13.31
HGVS: NM_002075.4(GNB3):c.200C>T (p.Ser67Phe)
Allele change: Missense_S67F

Associated conditions / phenotypes

Congenital stationary night blindness 1H

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.