Variant (rsID / SNP)

rs200623218

rs200623218 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP4V2. Location: chromosome 4, position 187,130,360. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CYP4V2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:187130360
Cytoband: 4q35.2
HGVS: NM_207352.4(CYP4V2):c.1339G>A (p.Glu447Lys)
Allele change: Missense_E447K

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.