Variant (rsID / SNP)

rs140620118

rs140620118 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZNF513. Location: chromosome 2, position 27,601,514. 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: 2:27601514
Cytoband: 2p23.3
HGVS: NM_144631.6(ZNF513):c.619C>T (p.Arg207Cys)
Allele change: Missense_R145C

Associated conditions / phenotypes

Retinitis Pigmentosa, Dominant|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.