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Variant (rsID / SNP)

rs55732384

ABCA4

rs55732384 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,577,117. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ABCA4Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:94577117
Cytoband
1p22.1
HGVS
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)
Allele change
Missense_A60V

Associated conditions / phenotypes

Severe early-childhood-onset retinal dystrophy|Cone-rod dystrophy 3|Retinitis pigmentosa 19|Age related macular degeneration 2|Severe early-childhood-onset retinal dystrophy|Retinal dystrophy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.