Variant (rsID / SNP)

rs112285834

rs112285834 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPHA2. Location: chromosome 1, position 16,458,339. Clinical significance in the table: Benign.

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Reference-table entries

EPHA2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:16458339
Cytoband: 1p36.13
HGVS: NM_004431.5(EPHA2):c.2352C>T (p.Thr784=)
Allele change: Synonymous_T784T

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.