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Variant (rsID / SNP)

rs145805694

CRX

rs145805694 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRX. Location: chromosome 19, position 48,342,562. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CRXConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:48342562
Cytoband
19q13.33
HGVS
NM_000554.6(CRX):c.253-15G>A
Allele change
Silent

Associated conditions / phenotypes

Retinitis pigmentosa|Leber congenital amaurosis 7|Cone-rod dystrophy 2|Leber congenital amaurosis 7|Cone-rod dystrophy 2

Public references

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