Variant (rsID / SNP)
rs1801574
rs1801574 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,476,388. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
ABCA4Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:94476388
- Cytoband
- 1p22.1
- HGVS
- NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=)
- Allele change
- Synonymous_L1894L
Associated conditions / phenotypes
Stargardt Disease, Recessive|Cone-Rod Dystrophy, Recessive|Retinitis Pigmentosa, Recessive|Macular degeneration|ABCA4-Related Disorders|Severe early-childhood-onset retinal dystrophy|Retinitis pigmentosa 19|Cone-rod dystrophy 3|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.