Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs61749410

ABCA4

rs61749410 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,528,265. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

ABCA4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:94528265
Cytoband
1p22.1
HGVS
NM_000350.3(ABCA4):c.1805G>A (p.Arg602Gln)
Allele change
Missense_R602Q

Associated conditions / phenotypes

Macular degeneration|Cone-Rod Dystrophy, Recessive|Retinitis Pigmentosa, Recessive|Stargardt Disease, Recessive|ABCA4-Related Disorders

Public references

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