Variant (rsID / SNP)

rs121434551

rs121434551 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CA4. Location: chromosome 17, position 58,235,718. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CA4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:58235718
Cytoband: 17q23.1
HGVS: NM_000717.5(CA4):c.655C>A (p.Arg219Ser)
Allele change: Silent

Associated conditions / phenotypes

Retinitis pigmentosa 17

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.