Variant (rsID / SNP)

rs61750187

rs61750187 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GUCY2D. Location: chromosome 17, position 7,919,099. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GUCY2DLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:7919099
Cytoband: 17p13.1
HGVS: NM_000180.4(GUCY2D):c.2983C>T (p.Arg995Trp)
Allele change: Missense_R995W

Associated conditions / phenotypes

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.