Variant (rsID / SNP)

rs104894559

rs104894559 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CA4. Location: chromosome 17, position 58,227,435. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CA4Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:58227435
Cytoband: 17q23.1
HGVS: NM_000717.5(CA4):c.40C>T (p.Arg14Trp)
Allele change: Silent

Associated conditions / phenotypes

Retinitis pigmentosa 17|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.