Variant (rsID / SNP)

rs17656693

rs17656693 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNV2. Location: chromosome 9, position 2,718,588. Clinical significance in the table: Benign.

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Reference-table entries

KCNV2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:2718588
Cytoband: 9p24.2
HGVS: NM_133497.4(KCNV2):c.849G>A (p.Glu283=)
Allele change: Synonymous_E283E

Associated conditions / phenotypes

Cone dystrophy with supernormal rod response

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.