Variant (rsID / SNP)

rs142744007

rs142744007 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNV2. Location: chromosome 9, position 2,718,822. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

KCNV2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:2718822
Cytoband: 9p24.2
HGVS: NM_133497.4(KCNV2):c.1083A>G (p.Gln361=)
Allele change: Synonymous_Q361Q

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.