Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs145731729

KCNV2

rs145731729 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNV2. Location: chromosome 9, position 2,717,819. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

KCNV2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:2717819
Cytoband
9p24.2
HGVS
NM_133497.4(KCNV2):c.80G>A (p.Arg27His)
Allele change
Missense_R27H

Associated conditions / phenotypes

Cone dystrophy with supernormal rod response|Cone dystrophy 3

Public references

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