Variant (rsID / SNP)
rs80358284
rs80358284 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FZD4. Location: chromosome 11, position 86,663,485. Clinical significance in the table: Pathogenic.
Reference-table entries
FZD4Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:86663485
- Cytoband
- 11q14.2
- HGVS
- NM_012193.4(FZD4):c.313A>G (p.Met105Val)
- Allele change
- Silent
Associated conditions / phenotypes
Exudative retinopathy|Familial exudative vitreoretinopathy|Exudative vitreoretinopathy 1|Familial exudative vitreoretinopathy|Atrophia bulborum hereditaria|Retinal dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.