Variant (rsID / SNP)

rs61750174

rs61750174 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GUCY2D. Location: chromosome 17, position 7,918,022. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GUCY2DUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:7918022
Cytoband: 17p13.1
HGVS: NM_000180.4(GUCY2D):c.2516C>T (p.Thr839Met)
Allele change: Missense_T839M

Associated conditions / phenotypes

Cone-rod dystrophy 6|Leber congenital amaurosis 1

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.