Variant (rsID / SNP)

rs1473295

rs1473295 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CERKL. Location: chromosome 2, position 182,521,578. Clinical significance in the table: Benign.

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Reference-table entries

CERKLBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:182521578
Cytoband: 2q31.3
HGVS: NM_201548.5(CERKL):c.156C>T (p.Phe52=)
Allele change: Silent

Associated conditions / phenotypes

Retinitis pigmentosa|Retinitis pigmentosa 26

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.