Variant (rsID / SNP)

rs34745240

rs34745240 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP4V2. Location: chromosome 4, position 187,122,332. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CYP4V2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 4:187122332
Cytoband: 4q35.2
HGVS: NM_207352.4(CYP4V2):c.823G>A (p.Glu275Lys)
Allele change: Missense_E275K

Associated conditions / phenotypes

Corneal dystrophy|Bietti crystalline corneoretinal dystrophy

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.