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Variant (rsID / SNP)

rs61742428

ZNF513

rs61742428 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZNF513. Location: chromosome 2, position 27,601,352. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ZNF513Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:27601352
Cytoband
2p23.3
HGVS
NM_144631.6(ZNF513):c.781G>A (p.Val261Met)
Allele change
Missense_V199M

Associated conditions / phenotypes

Retinitis pigmentosa 58|Retinitis pigmentosa

Public references

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