Variant (rsID / SNP)
rs1800555
rs1800555 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,463,617. 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
- 1:94463617
- Cytoband
- 1p22.1
- HGVS
- NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn)
- Allele change
- Missense_D2177N
Associated conditions / phenotypes
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO|Stargardt Disease, Recessive|Cone-Rod Dystrophy, Recessive|Macular degeneration|Retinitis Pigmentosa, 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.