Variant (rsID / SNP)

rs145592908

rs145592908 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPHA2. Location: chromosome 1, position 16,458,645. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

EPHA2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:16458645
Cytoband: 1p36.13
HGVS: NM_004431.5(EPHA2):c.2239G>A (p.Val747Ile)
Allele change: Missense_V747I

Associated conditions / phenotypes

Cataract 6 multiple types

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.