Variant (rsID / SNP)
rs61750152
rs61750152 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,490,567. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
ABCA4Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:94490567
- Cytoband
- 1p22.1
- HGVS
- NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)
- Allele change
- Missense_T1526M
Associated conditions / phenotypes
Severe early-childhood-onset retinal dystrophy|Retinitis pigmentosa 19|Inborn genetic diseases|Stargardt disease|Retinal dystrophy|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.