Variant (rsID / SNP)
rs80358301
rs80358301 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FZD4. Location: chromosome 11, position 86,662,314. Clinical significance in the table: Pathogenic.
Reference-table entries
FZD4Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 11:86662314
- Cytoband
- 11q14.2
- HGVS
- NM_012193.4(FZD4):c.1479_1484del (p.Met493_Trp494del)
Associated conditions / phenotypes
Exudative vitreoretinopathy 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.