Variant (rsID / SNP)

rs201327014

rs201327014 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNV2. Location: chromosome 9, position 2,718,384. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

KCNV2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:2718384
Cytoband: 9p24.2
HGVS: NM_133497.4(KCNV2):c.645G>C (p.Lys215Asn)
Allele change: Missense_K215N

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.