Variant (rsID / SNP)
rs61751392
rs61751392 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,528,806. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ABCA4Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:94528806
- Cytoband
- 1p22.1
- HGVS
- NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
- Allele change
- Missense_L541P
Associated conditions / phenotypes
Severe early-childhood-onset retinal dystrophy|Retinitis pigmentosa|Retinal dystrophy|Macular dystrophy|Stargardt disease|Age related macular degeneration 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.