Variant (rsID / SNP)
rs61750130
rs61750130 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,496,666. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:94496666
- Cytoband
- 1p22.1
- HGVS
- NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)
- Allele change
- Missense_P1380L
Associated conditions / phenotypes
Severe early-childhood-onset retinal dystrophy|MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO|Mandibulofacial dysostosis with mental deficiency|Age related macular degeneration 2|Severe early-childhood-onset retinal dystrophy|Cone-rod dystrophy 3|Retinitis pigmentosa 19|ABCA4-Related Disorders|Stargardt disease|Retinal dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.