Variant (rsID / SNP)

rs12974951

rs12974951 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRX. Location: chromosome 19, position 48,345,928. Clinical significance in the table: Benign.

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Reference-table entries

CRXBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:48345928
Cytoband: 19q13.33
HGVS: NM_000554.6(CRX):c.*2704C>T
Allele change: Silent

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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