Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs61745524

CYP4V2

rs61745524 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP4V2. Location: chromosome 4, position 187,118,692. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CYP4V2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:187118692
Cytoband
4q35.1
HGVS
NM_207352.4(CYP4V2):c.610G>A (p.Ala204Thr)
Allele change
Missense_A204T

Associated conditions / phenotypes

Corneal dystrophy|Bietti crystalline corneoretinal dystrophy

Public references

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