Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs28938473

ABCA4

rs28938473 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,473,287. 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
1:94473287
Cytoband
1p22.1
HGVS
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)
Allele change
Missense_L1970F

Associated conditions / phenotypes

Stargardt disease|Severe early-childhood-onset retinal dystrophy|ABCA4-Related Disorders|Vitreoretinopathy|Retinal dystrophy

Public references

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