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Variant (rsID / SNP)

rs34598902

GUCY2D

rs34598902 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GUCY2D. Location: chromosome 17, position 7,915,912. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

GUCY2DBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
17:7915912
Cytoband
17p13.1
HGVS
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser)
Allele change
Missense_P701S

Associated conditions / phenotypes

Leber congenital amaurosis 1|Cone-rod dystrophy 6|Leber congenital amaurosis 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.