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Variant (rsID / SNP)

rs138359497

ABCA4

rs138359497 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,574,205. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ABCA4Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
1:94574205
Cytoband
1p22.1
HGVS
NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys)
Allele change
Missense_R124C

Associated conditions / phenotypes

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

Public references

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