Variant (rsID / SNP)

rs104894114

rs104894114 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNV2. Location: chromosome 9, position 2,718,655. Clinical significance in the table: Pathogenic.

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Reference-table entries

KCNV2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:2718655
Cytoband: 9p24.2
HGVS: NM_133497.4(KCNV2):c.916G>T (p.Glu306Ter)
Allele change: Nonsense_E306X

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.