Variant (rsID / SNP)

rs55747232

rs55747232 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPHA2. Location: chromosome 1, position 16,461,581. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

EPHA2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:16461581
Cytoband: 1p36.13
HGVS: NM_004431.5(EPHA2):c.1532C>T (p.Thr511Met)
Allele change: Missense_T511M

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.