Variant (rsID / SNP)
rs113106943
rs113106943 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,487,404. 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
- 1:94487404
- Cytoband
- 1p22.1
- HGVS
- NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg)
- Allele change
- Missense_G1591R
Associated conditions / phenotypes
Retinitis Pigmentosa, Recessive|Stargardt Disease, Recessive|Macular degeneration|Cone-Rod Dystrophy, Recessive|Severe early-childhood-onset retinal dystrophy|Cone dystrophy|Retinal dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.