Variant (rsID / SNP)

rs1055138

rs1055138 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP4V2. Location: chromosome 4, position 187,113,041. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CYP4V2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:187113041
Cytoband: 4q35.1
HGVS: NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val)
Allele change: Missense_L22V

Associated conditions / phenotypes

Bietti crystalline corneoretinal dystrophy|Corneal 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.