Variant (rsID / SNP)

rs267607182

rs267607182 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZNF513. Location: chromosome 2, position 27,601,023. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ZNF513Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:27601023
Cytoband: 2p23.3
HGVS: NM_144631.6(ZNF513):c.1015T>C (p.Cys339Arg)
Allele change: Missense_C277R

Associated conditions / phenotypes

Retinitis pigmentosa 58|Retinitis Pigmentosa, Dominant

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.