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Variant (rsID / SNP)

rs116506614

EPHA2

rs116506614 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPHA2. Location: chromosome 1, position 16,458,722. 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
1:16458722
Cytoband
1p36.13
HGVS
NM_004431.5(EPHA2):c.2162G>A (p.Arg721Gln)
Allele change
Missense_R721Q

Associated conditions / phenotypes

Cataract 6, age-related cortical|Cataract 6 multiple types|Cortical senile cataract

Public references

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